V36A (p.Val36Ala) variant of GJA5 (Gap junction alpha-5 protein)
V36A (p.Val36Ala) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
V36A (p.Val36Ala) variant details
- p.Val36Ala
- gnomAD rs1663886437
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- MetaLR 0.98
- MetaSVM 1.04
- CADD 27.10
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)