L80P (p.Leu80Pro) variant of GJA5 (Gap junction alpha-5 protein)
L80P (p.Leu80Pro) 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.
L80P (p.Leu80Pro) variant details
- p.Leu80Pro
- gnomAD 1-147759000-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- MetaLR 0.99
- MetaSVM 0.99
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available