W78C (p.Trp78Cys) variant of GJA5 (Gap junction alpha-5 protein)
W78C (p.Trp78Cys) 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.
W78C (p.Trp78Cys) variant details
- p.Trp78Cys
- gnomAD 1-147759005-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- MetaLR 0.99
- MetaSVM 0.96
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available