I31L (p.Ile31Leu) variant of GJA5 (Gap junction alpha-5 protein)
I31L (p.Ile31Leu) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
I31L (p.Ile31Leu) variant details
- p.Ile31Leu
- gnomAD 1-147759148-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- MetaLR 0.96
- MetaSVM 1.11
- CADD 25.70
- PolyPhen-2 0.82
- SIFT 0.00
- Population evidence available
- Literature evidence available