I82V (p.Ile82Val) variant of GJA1 (Gap junction alpha-1 protein)
I82V (p.Ile82Val) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
I82V (p.Ile82Val) variant details
- p.Ile82Val
- TOPMed rs1466665249
- gnomAD rs1466665249
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.68
- MetaLR 0.89
- MetaSVM 0.97
- CADD 23.40
- PolyPhen-2 0.35
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available