V28D (p.Val28Asp) variant of GJA5 (Gap junction alpha-5 protein)
V28D (p.Val28Asp) 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.
V28D (p.Val28Asp) variant details
- p.Val28Asp
- gnomAD 1-147759156-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- MetaLR 0.99
- MetaSVM 1.01
- CADD 27.30
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Literature evidence available