C54S (p.Cys54Ser) variant of GJA1 (Gap junction alpha-1 protein)
C54S (p.Cys54Ser) in GJA1 (Gap junction alpha-1 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
C54S (p.Cys54Ser) variant details
- p.Cys54Ser
- gnomAD 6-121447008-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.96
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available