S5R (p.Ser5Arg) variant of GJA5 (Gap junction alpha-5 protein)
S5R (p.Ser5Arg) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- cosmic curated COSV54784
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- MetaLR 0.96
- MetaSVM 1.09
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available