P71A (p.Pro71Ala) variant of GJA5 (Gap junction alpha-5 protein)
P71A (p.Pro71Ala) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and published literature.
P71A (p.Pro71Ala) variant details
- p.Pro71Ala
- gnomAD 1-147759028-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- MetaLR 0.99
- MetaSVM 0.98
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available