A44V (p.Ala44Val) variant of GJA1 (Gap junction alpha-1 protein)
A44V (p.Ala44Val) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Erythrokeratodermia variabilis et progressiva 3; Oculodentodigital dysplasia, au. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- rs794729675
- ClinGen CA203901
- ClinVar RCV000185625
- ClinVar RCV002516956
- Pathogenic/Likely pathogenic
- Erythrokeratodermia variabilis et progressiva 3; Oculodentodigital dysplasia, au
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- AlphaMissense 0.79
- MetaLR 0.52
- MetaSVM -0.06
- PolyPhen-2 0.17
- SIFT 1.00
- EVE 0.15
- ClinVar: Pathogenic/Likely pathogenic (Erythrokeratodermia variabilis et progressiva 3; Oculodentodigit)
- EBI: Pathogenic (in EKVP3)
- UniProt: Pathogenic (in EKVP3)
- Structural context available
- Cited in: Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of… (PMID 25398053)