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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80
P M I H T P L V D T V S E E G D I V H L T T S I T N A K E V N W Y F E N K L V P S D E K F K C L Q D Q N T Y T L V I D K V N T E D H Q G E Y V C E A L N D S G K T A T S A K L T V V K R A A P V I K R K I E P L E V A L G H L A K F T C E I Q S A P N V R F Q W F K A G R E I Y E S D K C S I R S S K Y I S S L E I L R T Q V V D C G E Y T C K A S N E Y G S V S C T A T L T V T
P M I H T P L V D T V S E E G D I V H L T T S I T N A K E V N W Y F E N K L V P S D E K F K C L Q D Q N T Y T L V I D K V N T E D H Q G E Y V C E A L N D S G K T A T S A K L T V - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
4606 1 P/L 1 None 0.1826 None gnomAD-4.0.0 6.84201E-07
4606 1 P/R 1 rs762079270 0.1826 None gnomAD-2.1.1 1.21E-05
4606 1 P/R 1 rs762079270 0.1826 None gnomAD-3.1.2 1.32E-05
4606 1 P/R 1 rs762079270 0.1826 None gnomAD-4.0.0 1.98317E-05
4607 2 M/K 2 rs1391877719 0.6169 None gnomAD-4.0.0 1.59119E-06
4607 2 M/V 2 rs371275648 0.6169 None gnomAD-2.1.1 8.93E-05
4607 2 M/V 2 rs371275648 0.6169 None gnomAD-3.1.2 5.91E-05
4607 2 M/V 2 rs371275648 0.6169 None gnomAD-4.0.0 7.86978E-05
4608 3 I/T 3 None 0.2050 None gnomAD-4.0.0 1.59118E-06
4610 5 T/A 5 rs756313556 0.4341 None gnomAD-2.1.1 4.02E-06
4610 5 T/A 5 rs756313556 0.4341 None gnomAD-4.0.0 1.59113E-06
4610 5 T/I 5 None 0.4341 None gnomAD-4.0.0 1.36838E-06
4610 5 T/K 5 None 0.4341 None gnomAD-4.0.0 6.84189E-07
4610 5 T/R 5 rs748210214 0.4341 None gnomAD-2.1.1 3.62E-05
4610 5 T/R 5 rs748210214 0.4341 None gnomAD-4.0.0 6.84189E-06
4611 6 P/H 7 rs1468424407 0.5124 None gnomAD-2.1.1 4.02E-06
4611 6 P/H 7 rs1468424407 0.5124 None gnomAD-4.0.0 4.10512E-06
4611 6 P/S 7 rs1176048298 0.5124 None gnomAD-2.1.1 4.02E-06
4611 6 P/S 7 rs1176048298 0.5124 None gnomAD-4.0.0 1.59117E-06
4613 8 V/A 9 rs755215227 0.7274 None gnomAD-2.1.1 4.02E-06
4613 8 V/A 9 rs755215227 0.7274 None gnomAD-4.0.0 3.42092E-06
4613 8 V/E 9 None 0.7274 None gnomAD-4.0.0 2.05255E-06
4613 8 V/M 9 rs781337192 0.7274 None gnomAD-2.1.1 4.02E-06
4615 10 T/A 13 rs751677635 0.3236 None gnomAD-2.1.1 4.02E-06
4615 10 T/A 13 rs751677635 0.3236 None gnomAD-4.0.0 1.36838E-06
4616 11 V/I 14 rs1008595479 0.5864 None gnomAD-4.0.0 1.59114E-06
4616 11 V/L 14 rs1008595479 0.5864 None gnomAD-2.1.1 4.02E-06
4616 11 V/L 14 rs1008595479 0.5864 None gnomAD-4.0.0 1.59114E-06
4618 13 E/G 18 rs774836172 0.1654 None gnomAD-2.1.1 4.02E-06
4618 13 E/G 18 rs774836172 0.1654 None gnomAD-3.1.2 1.31E-05
4618 13 E/G 18 rs774836172 0.1654 None gnomAD-4.0.0 1.67309E-05
4620 15 G/D 24 rs55857742 0.2636 None gnomAD-2.1.1 3.5296E-03
4620 15 G/D 24 rs55857742 0.2636 None gnomAD-3.1.2 1.81364E-03
4620 15 G/D 24 rs55857742 0.2636 None 1000 genomes 5.99042E-03
4620 15 G/D 24 rs55857742 0.2636 None gnomAD-4.0.0 2.23065E-03
4620 15 G/R 24 rs905994651 0.2636 None gnomAD-3.1.2 6.57E-06
4620 15 G/R 24 rs905994651 0.2636 None gnomAD-4.0.0 6.57168E-06
4620 15 G/S 24 None 0.2636 None gnomAD-4.0.0 2.40064E-06
4620 15 G/V 24 rs55857742 0.2636 None gnomAD-2.1.1 4.02E-06
4620 15 G/V 24 rs55857742 0.2636 None gnomAD-4.0.0 1.36838E-06
4621 16 D/G 25 None 0.2522 None gnomAD-4.0.0 1.59116E-06
4622 17 I/F 26 rs397517831 0.5163 None gnomAD-3.1.2 6.57E-06
4622 17 I/F 26 rs397517831 0.5163 None gnomAD-4.0.0 6.57047E-06
4622 17 I/T 26 rs750953886 0.5163 None gnomAD-2.1.1 8.05E-06
4622 17 I/T 26 rs750953886 0.5163 None gnomAD-3.1.2 6.57E-06
4622 17 I/T 26 rs750953886 0.5163 None gnomAD-4.0.0 3.09838E-06
4623 18 V/I 28 None 0.1698 None gnomAD-4.0.0 1.59118E-06
4626 21 T/K 31 rs886039164 0.3279 None gnomAD-3.1.2 6.57E-06
4626 21 T/K 31 rs886039164 0.3279 None gnomAD-4.0.0 2.56214E-06
4628 23 S/C 34 None 0.1915 None gnomAD-4.0.0 6.8421E-07
4628 23 S/F 34 rs794729602 0.1915 None gnomAD-2.1.1 8.05E-06
4628 23 S/F 34 rs794729602 0.1915 None gnomAD-3.1.2 2.63E-05
4628 23 S/F 34 rs794729602 0.1915 None gnomAD-4.0.0 2.10703E-05
4628 23 S/Y 34 rs794729602 0.1915 None gnomAD-3.1.2 6.57E-06
4628 23 S/Y 34 rs794729602 0.1915 None gnomAD-4.0.0 1.85914E-06
4629 24 I/T 35 rs994541516 0.0964 None gnomAD-2.1.1 4.02E-06
4629 24 I/T 35 rs994541516 0.0964 None gnomAD-4.0.0 1.36842E-06
4629 24 I/V 35 rs774964232 0.0964 None gnomAD-2.1.1 4.02E-06
4629 24 I/V 35 rs774964232 0.0964 None gnomAD-4.0.0 1.59126E-06
4630 25 T/I 38 rs766878814 0.3166 None gnomAD-2.1.1 4.02E-06
4630 25 T/I 38 rs766878814 0.3166 None gnomAD-4.0.0 1.59128E-06
4632 27 A/V 43 rs1225957839 0.2467 None gnomAD-2.1.1 8.05E-06
4632 27 A/V 43 rs1225957839 0.2467 None gnomAD-4.0.0 4.77392E-06
4633 28 K/E 44 rs773833776 0.5831 None gnomAD-2.1.1 3.57E-05
4633 28 K/E 44 rs773833776 0.5831 None gnomAD-3.1.2 1.97E-05
4633 28 K/E 44 rs773833776 0.5831 None gnomAD-4.0.0 1.30135E-05
4633 28 K/I 44 rs555756236 0.5831 None gnomAD-2.1.1 6.84E-05
4633 28 K/I 44 rs555756236 0.5831 None gnomAD-3.1.2 3.29E-05
4633 28 K/I 44 rs555756236 0.5831 None 1000 genomes 1.99681E-04
4633 28 K/I 44 rs555756236 0.5831 None gnomAD-4.0.0 3.96576E-05
4634 29 E/D 45 rs1408608016 0.4639 None gnomAD-2.1.1 4.03E-06
4634 29 E/D 45 rs1408608016 0.4639 None gnomAD-4.0.0 4.10548E-06
4635 30 V/A 46 None 0.2156 None gnomAD-4.0.0 4.10548E-06
4635 30 V/M 46 None 0.2156 None gnomAD-4.0.0 1.20032E-06
4636 31 N/S 47 rs773324490 0.3141 None gnomAD-2.1.1 2.5E-05
4636 31 N/S 47 rs773324490 0.3141 None gnomAD-3.1.2 1.31E-05
4636 31 N/S 47 rs773324490 0.3141 None gnomAD-4.0.0 7.68673E-06
4637 32 W/C 48 None 0.1643 None gnomAD-4.0.0 1.59159E-06
4637 32 W/L 48 rs1362989287 0.1643 None gnomAD-2.1.1 4.03E-06
4637 32 W/L 48 rs1362989287 0.1643 None gnomAD-3.1.2 1.31E-05
4637 32 W/L 48 rs1362989287 0.1643 None gnomAD-4.0.0 3.84414E-06
4638 33 Y/C 49 rs2082072923 0.2487 None gnomAD-4.0.0 1.20032E-06
4638 33 Y/N 49 rs376513367 0.2487 None gnomAD-3.1.2 1.31E-05
4638 33 Y/N 49 rs376513367 0.2487 None gnomAD-4.0.0 3.09865E-06
4639 34 F/I 50 rs374885319 0.1382 None gnomAD-3.1.2 6.57E-06
4639 34 F/I 50 rs374885319 0.1382 None gnomAD-4.0.0 6.57099E-06
4640 35 E/G 51 rs1441462753 0.4653 None gnomAD-2.1.1 4.03E-06
4640 35 E/G 51 rs1441462753 0.4653 None gnomAD-4.0.0 4.10582E-06
4640 35 E/K 51 rs1156910102 0.4653 None gnomAD-4.0.0 1.5917E-06
4640 35 E/Q 51 rs1156910102 0.4653 None gnomAD-2.1.1 4.03E-06
4640 35 E/Q 51 rs1156910102 0.4653 None gnomAD-4.0.0 1.5917E-06
4641 36 N/D 52 None 0.9469 None gnomAD-4.0.0 1.59181E-06
4641 36 N/I 52 rs1297520971 0.9469 None gnomAD-3.1.2 6.57E-06
4641 36 N/I 52 rs1297520971 0.9469 None gnomAD-4.0.0 6.57082E-06
4641 36 N/S 52 None 0.9469 None gnomAD-4.0.0 1.59184E-06
4642 37 K/E 55 rs371961804 0.4368 None gnomAD-2.1.1 8.06E-06
4642 37 K/E 55 rs371961804 0.4368 None gnomAD-3.1.2 1.97E-05
4642 37 K/E 55 rs371961804 0.4368 None gnomAD-4.0.0 1.97099E-05
4643 38 L/Q 56 None 0.4573 None gnomAD-4.0.0 1.59208E-06
4644 39 V/A 58 None 0.1702 None gnomAD-4.0.0 1.59222E-06
4644 39 V/L 58 rs2082069274 0.1702 None gnomAD-3.1.2 6.57E-06
4644 39 V/L 58 rs2082069274 0.1702 None gnomAD-4.0.0 6.57471E-06
4644 39 V/M 58 rs2082069274 0.1702 None gnomAD-4.0.0 2.40064E-06
4647 42 D/G 73 rs781348816 0.3331 None gnomAD-2.1.1 1.79E-05
4647 42 D/G 73 rs781348816 0.3331 None gnomAD-3.1.2 6.57E-06
4647 42 D/G 73 rs781348816 0.3331 None gnomAD-4.0.0 1.17786E-05
4647 42 D/N 73 rs2082068479 0.3331 None gnomAD-3.1.2 6.57E-06
4647 42 D/N 73 rs2082068479 0.3331 None gnomAD-4.0.0 1.23994E-06
4648 43 E/A 102 rs1372025302 0.9649 None gnomAD-3.1.2 6.57E-06
4648 43 E/A 102 rs1372025302 0.9649 None gnomAD-4.0.0 4.95986E-06
4648 43 E/Q 102 None 0.9649 None gnomAD-4.0.0 1.59332E-06
4649 44 K/E 115 rs1060500392 0.4071 None gnomAD-4.0.0 6.84606E-06
4649 44 K/N 115 rs1574063706 0.4071 None gnomAD-4.0.0 1.36939E-06
4650 45 F/L 121 rs2082065436 0.1859 None gnomAD-4.0.0 1.59378E-06
4651 46 K/E 122 rs1244637034 0.2957 None gnomAD-2.1.1 4.03E-06
4651 46 K/E 122 rs1244637034 0.2957 None gnomAD-4.0.0 3.18786E-06
4652 47 C/Y 123 rs2082064227 0.2992 None gnomAD-3.1.2 6.57E-06
4652 47 C/Y 123 rs2082064227 0.2992 None gnomAD-4.0.0 6.57229E-06
4655 50 D/H 130 rs1299692717 0.6871 None gnomAD-3.1.2 6.57E-06
4655 50 D/H 130 rs1299692717 0.6871 None gnomAD-4.0.0 2.48326E-06
4655 50 D/N 130 None 0.6871 None gnomAD-4.0.0 6.85563E-07
4656 51 Q/E 131 rs747289468 0.7126 None gnomAD-2.1.1 8.09E-06
4656 51 Q/E 131 rs747289468 0.7126 None gnomAD-4.0.0 3.42936E-06
4657 52 N/H 134 rs200204761 0.4605 None gnomAD-2.1.1 2.47713E-03
4657 52 N/H 134 rs200204761 0.4605 None gnomAD-3.1.2 9.00025E-04
4657 52 N/H 134 rs200204761 0.4605 None 1000 genomes 2.99521E-03
4657 52 N/H 134 rs200204761 0.4605 None gnomAD-4.0.0 1.52586E-03
4657 52 N/K 134 None 0.4605 None gnomAD-4.0.0 1.60093E-06
4657 52 N/T 134 None 0.4605 None gnomAD-4.0.0 1.20032E-06
4658 53 T/I 135 rs758799742 0.2945 None gnomAD-2.1.1 1.22E-05
4658 53 T/I 135 rs758799742 0.2945 None gnomAD-4.0.0 5.49212E-06
4658 53 T/K 135 rs758799742 0.2945 None gnomAD-3.1.2 6.57E-06
4658 53 T/K 135 rs758799742 0.2945 None gnomAD-4.0.0 6.56771E-06
4659 54 Y/C 136 rs34706803 0.1566 None gnomAD-2.1.1 1.3346E-03
4659 54 Y/C 136 rs34706803 0.1566 None gnomAD-3.1.2 7.88302E-04
4659 54 Y/C 136 rs34706803 0.1566 None gnomAD-4.0.0 8.09016E-04
4659 54 Y/H 136 rs779449934 0.1566 None gnomAD-2.1.1 8.11E-06
4659 54 Y/H 136 rs779449934 0.1566 None gnomAD-4.0.0 3.43391E-06
4660 55 T/K 137 rs754231728 0.1565 None gnomAD-4.0.0 6.8739E-07
4660 55 T/M 137 rs754231728 0.1565 None gnomAD-2.1.1 2.16E-05
4660 55 T/M 137 rs754231728 0.1565 None gnomAD-3.1.2 3.94E-05
4660 55 T/M 137 rs754231728 0.1565 None gnomAD-4.0.0 9.95679E-06
4664 59 D/N 141 rs767084399 0.4378 None gnomAD-2.1.1 4.18E-06
4664 59 D/N 141 rs767084399 0.4378 None gnomAD-3.1.2 6.57E-06
4664 59 D/N 141 rs767084399 0.4378 None gnomAD-4.0.0 6.27357E-06
4665 60 K/R 143 None 0.5935 None gnomAD-4.0.0 1.20032E-06
4666 61 V/I 144 rs1361124171 0.0991 None gnomAD-2.1.1 4.24E-06
4666 61 V/I 144 rs1361124171 0.0991 None gnomAD-4.0.0 1.04332E-05
4666 61 V/L 144 None 0.0991 None gnomAD-4.0.0 1.3911E-06
4668 63 T/A 146 rs758920941 0.3002 None gnomAD-2.1.1 3.79E-05
4668 63 T/A 146 rs758920941 0.3002 None gnomAD-3.1.2 1.97E-05
4668 63 T/A 146 rs758920941 0.3002 None gnomAD-4.0.0 2.08029E-05
4669 64 E/G 148 None 0.8843 None gnomAD-4.0.0 1.20032E-06
4669 64 E/K 148 rs368543748 0.8843 None gnomAD-2.1.1 7.44E-05
4669 64 E/K 148 rs368543748 0.8843 None gnomAD-3.1.2 3.94E-05
4669 64 E/K 148 rs368543748 0.8843 None 1000 genomes 1.99681E-04
4669 64 E/K 148 rs368543748 0.8843 None gnomAD-4.0.0 3.67032E-05
4671 66 H/P 150 None 0.1402 None gnomAD-4.0.0 4.22127E-06
4671 66 H/R 150 rs1187898904 0.1402 None gnomAD-2.1.1 4.48E-06
4671 66 H/R 150 rs1187898904 0.1402 None gnomAD-4.0.0 2.81418E-06
4671 66 H/Y 150 rs2082054664 0.1402 None gnomAD-3.1.2 6.57E-06
4671 66 H/Y 150 rs2082054664 0.1402 None gnomAD-4.0.0 4.05004E-06
4672 67 Q/K 151 rs1553935908 0.3595 None gnomAD-4.0.0 5.10927E-06
4672 67 Q/R 151 rs762907912 0.3595 None gnomAD-2.1.1 4.51E-06
4672 67 Q/R 151 rs762907912 0.3595 None gnomAD-3.1.2 6.57E-06
4672 67 Q/R 151 rs762907912 0.3595 None gnomAD-4.0.0 4.05914E-06
4673 68 G/E 152 rs374361492 0.1847 None gnomAD-2.1.1 1.99E-05
4673 68 G/E 152 rs374361492 0.1847 None gnomAD-3.1.2 1.97E-05
4673 68 G/E 152 rs374361492 0.1847 None gnomAD-4.0.0 1.14639E-05
4673 68 G/R 152 None 0.1847 None gnomAD-4.0.0 1.40995E-06
4674 69 E/D 153 rs761849101 0.4847 None gnomAD-2.1.1 4.66E-06
4674 69 E/D 153 rs761849101 0.4847 None gnomAD-4.0.0 7.09787E-07
4674 69 E/Q 153 rs1196320491 0.4847 None gnomAD-2.1.1 4.59E-06
4674 69 E/Q 153 rs1196320491 0.4847 None gnomAD-4.0.0 1.72318E-06
4675 70 Y/C 154 rs776394244 0.1037 None gnomAD-2.1.1 2.34E-05
4675 70 Y/C 154 rs776394244 0.1037 None gnomAD-3.1.2 1.31E-05
4675 70 Y/C 154 rs776394244 0.1037 None gnomAD-4.0.0 5.12455E-06
4675 70 Y/H 154 None 0.1037 None gnomAD-4.0.0 2.40064E-06
4677 72 C/R 156 None 0.0881 None gnomAD-4.0.0 1.43192E-06
4677 72 C/S 156 None 0.0881 None gnomAD-4.0.0 1.43192E-06
4678 73 E/A 157 rs768807991 0.2853 None gnomAD-2.1.1 2.97E-05
4678 73 E/A 157 rs768807991 0.2853 None gnomAD-4.0.0 9.3372E-06
4678 73 E/K 157 rs1361758337 0.2853 None gnomAD-2.1.1 4.94E-06
4678 73 E/K 157 rs1361758337 0.2853 None gnomAD-3.1.2 6.57E-06
4678 73 E/K 157 rs1361758337 0.2853 None gnomAD-4.0.0 4.21641E-06
4679 74 A/D 158 None 0.1061 None gnomAD-4.0.0 9.40304E-06
4679 74 A/G 158 rs2082047521 0.1061 None gnomAD-4.0.0 7.23311E-07
4680 75 L/S 159 None 0.2834 None gnomAD-4.0.0 1.20032E-06
4682 77 D/G 162 rs2082045865 0.8635 None gnomAD-3.1.2 6.57E-06
4682 77 D/G 162 rs2082045865 0.8635 None gnomAD-4.0.0 2.91265E-06
4684 79 G/R 164 rs377579941 0.3022 None gnomAD-2.1.1 5.69E-05
4684 79 G/R 164 rs377579941 0.3022 None gnomAD-3.1.2 9.2E-05
4684 79 G/R 164 rs377579941 0.3022 None gnomAD-4.0.0 2.4437E-05
4686 81 T/I 166 rs1436112479 0.2283 None gnomAD-3.1.2 6.57E-06
4686 81 T/I 166 rs1436112479 0.2283 None gnomAD-4.0.0 1.97805E-06
4686 81 T/K 166 None 0.2283 None gnomAD-4.0.0 2.93143E-06
4687 82 A/P 168 rs1291988238 0.3592 None gnomAD-3.1.2 6.57E-06
4687 82 A/T 168 None 0.3592 None gnomAD-4.0.0 1.88892E-06
4687 82 A/V 168 None 0.3592 None gnomAD-4.0.0 7.33699E-07
4689 84 S/L 171 rs772266620 0.3227 None gnomAD-2.1.1 1.13E-05
4689 84 S/L 171 rs772266620 0.3227 None gnomAD-4.0.0 5.66341E-06
4690 85 A/G 172 rs1364267725 0.1301 None gnomAD-3.1.2 1.31E-05
4690 85 A/G 172 rs1364267725 0.1301 None gnomAD-4.0.0 5.95023E-06
4690 85 A/P 172 None 0.1301 None gnomAD-4.0.0 7.34258E-07
4690 85 A/V 172 None 0.1301 None gnomAD-4.0.0 7.35073E-07
4693 88 T/S 175 None 0.3790 None gnomAD-4.0.0 7.35882E-07
4694 89 V/I 177 rs2082041686 0.1089 None gnomAD-4.0.0 2.94405E-06