Disease: AVB

Position Domain Domain position SNV RS Source Comments MAF Zygosity Structural Position AlphaMissense (IC) REVEL Rhapsody DUET PolyPhen-2 Condel
Q(SASA)
Site annotation
mCSM PPI
Predicted PPI site
 AFR AMR EAS EUR FIN NFE SAS
16429 Fn3-6 79 N/K rs763809932 Liu (2020) WES prioritisation in single AVB family; co-segregates with disease phenotype (n = 5, 5 affected (7 total)) None het 112 0.9996 0.556 0.763 None 1.0 None 0.0863 None None N None None None None None None None