I82F (p.Ile82Phe) variant of GJA1 (Gap junction alpha-1 protein)
I82F (p.Ile82Phe) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
I82F (p.Ile82Phe) variant details
- p.Ile82Phe
- TOPMed rs1466665249
- gnomAD rs1466665249
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.71
- MetaLR 0.91
- MetaSVM 0.97
- CADD 24.10
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available