S43S (p.Ser43Ser) variant of GJA1 (Gap junction alpha-1 protein)
S43S (p.Ser43Ser) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S43S (p.Ser43Ser) variant details
- p.Ser43Ser
- rs749135596
- gnomAD 6-121446976-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 8.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available