A69D (p.Ala69Asp) variant of GJA5 (Gap junction alpha-5 protein)
A69D (p.Ala69Asp) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
A69D (p.Ala69Asp) variant details
- p.Ala69Asp
- gnomAD 1-147759033-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- MetaLR 0.98
- MetaSVM 1.07
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available