S5R (p.Ser5Arg) variant of GJA1 (Gap junction alpha-1 protein)
S5R (p.Ser5Arg) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- gnomAD 6-121446862-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.78
- MetaLR 0.94
- MetaSVM 0.96
- CADD 21.90
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available