G8V (p.Gly8Val) variant of GJA1 (Gap junction alpha-1 protein)
G8V (p.Gly8Val) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal dominant palmoplantar keratoderma and congenital alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- rs864309644
- ClinGen CA278750
- ClinVar RCV000185623
- UniProt VAR 075754
- Pathogenic
- Autosomal dominant palmoplantar keratoderma and congenital alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.92
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 0.97
- SIFT 0.01
- EVE 0.85
- ClinVar: Pathogenic (Autosomal dominant palmoplantar keratoderma and congenital alope)
- EBI: Pathogenic (in PPKCA1)
- UniProt: Pathogenic (in PPKCA1)
- Structural context available
- Cited in: Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. (PMID 25168385)