S73S (p.Ser73Ser) variant of GJA1 (Gap junction alpha-1 protein)
S73S (p.Ser73Ser) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S73S (p.Ser73Ser) variant details
- p.Ser73Ser
- rs1320652565
- gnomAD 6-121447066-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.79
- Population evidence available
- Structural context available
- Literature evidence available