A20V (p.Ala20Val) variant of GJA1 (Gap junction alpha-1 protein)
A20V (p.Ala20Val) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs1386157776
- gnomAD rs1386157776
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.48
- MetaLR 0.76
- MetaSVM 0.50
- CADD 19.00
- PolyPhen-2 0.10
- SIFT 0.82
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available