V21G (p.Val21Gly) variant of GJA5 (Gap junction alpha-5 protein)
V21G (p.Val21Gly) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
V21G (p.Val21Gly) variant details
- p.Val21Gly
- gnomAD 1-147759177-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- MetaLR 0.97
- MetaSVM 1.10
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Literature evidence available