K68R (p.Lys68Arg) variant of GJA1 (Gap junction alpha-1 protein)
K68R (p.Lys68Arg) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
K68R (p.Lys68Arg) variant details
- p.Lys68Arg
- ESP rs374218530
- TOPMed rs374218530
- gnomAD rs374218530
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.58
- MetaLR 0.81
- MetaSVM 0.78
- CADD 22.60
- PolyPhen-2 0.09
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available