S50S (p.Ser50Ser) variant of GJA1 (Gap junction alpha-1 protein)
S50S (p.Ser50Ser) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S50S (p.Ser50Ser) variant details
- p.Ser50Ser
- rs1451772901
- gnomAD 6-121446997-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.91
- Population evidence available
- Structural context available
- Literature evidence available