S73F (p.Ser73Phe) variant of GJA5 (Gap junction alpha-5 protein)
S73F (p.Ser73Phe) 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 and published literature.
S73F (p.Ser73Phe) variant details
- p.Ser73Phe
- gnomAD 1-147759021-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- MetaLR 0.99
- MetaSVM 0.99
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available