G38A (p.Gly38Ala) variant of GJA5 (Gap junction alpha-5 protein)
G38A (p.Gly38Ala) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
G38A (p.Gly38Ala) variant details
- p.Gly38Ala
- gnomAD 1-147759126-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- MetaLR 0.95
- MetaSVM 1.12
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Literature evidence available