S18S (p.Ser18Ser) variant of GJA1 (Gap junction alpha-1 protein)
S18S (p.Ser18Ser) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- gnomAD 6-121446901-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 10.60
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available