S5S (p.Ser5Ser) variant of GJA1 (Gap junction alpha-1 protein)
S5S (p.Ser5Ser) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- rs758641783
- gnomAD 6-121446862-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 7.14
- Population evidence available
- Structural context available
- Literature evidence available