L29P (p.Leu29Pro) variant of GJA5 (Gap junction alpha-5 protein)
L29P (p.Leu29Pro) 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, published literature, and structural context.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- gnomAD 1-147759153-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- MetaLR 0.99
- MetaSVM 1.00
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available