G46A (p.Gly46Ala) variant of GJA1 (Gap junction alpha-1 protein)
G46A (p.Gly46Ala) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autosomal dominant palmoplantar keratoderma and congenital alopecia; Craniometap. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G46A (p.Gly46Ala) variant details
- p.Gly46Ala
- ExAC rs780272382
- TOPMed rs780272382
- gnomAD rs780272382
- Uncertain significance
- Autosomal dominant palmoplantar keratoderma and congenital alopecia; Craniometap
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.86
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.30
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal dominant palmoplantar keratoderma and congenital alope)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available