P71S (p.Pro71Ser) variant of GJA5 (Gap junction alpha-5 protein)
P71S (p.Pro71Ser) 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.
P71S (p.Pro71Ser) variant details
- p.Pro71Ser
- gnomAD 1-147759028-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- MetaLR 0.99
- MetaSVM 1.03
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available