P88L (p.Pro88Leu) variant of GJA5 (Gap junction alpha-5 protein)
P88L (p.Pro88Leu) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- ExAC rs782647757
- gnomAD rs782647757
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- MetaLR 0.99
- MetaSVM 1.00
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 9.3e-05)