S27S (p.Ser27Ser) variant of GJA1 (Gap junction alpha-1 protein)
S27S (p.Ser27Ser) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S27S (p.Ser27Ser) variant details
- p.Ser27Ser
- rs1286172260
- gnomAD 6-121446928-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0946
- CADD 1.97
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available