S86S (p.Ser86Ser) variant of GJA1 (Gap junction alpha-1 protein)
S86S (p.Ser86Ser) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S86S (p.Ser86Ser) variant details
- p.Ser86Ser
- gnomAD 6-121447105-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.88
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available