G22D (p.Gly22Asp) variant of GJA5 (Gap junction alpha-5 protein)
G22D (p.Gly22Asp) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and published literature.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- gnomAD 1-147759174-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- MetaLR 0.99
- MetaSVM 0.96
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available