S18S (p.Ser18Ser) variant of GJA5 (Gap junction alpha-5 protein)
S18S (p.Ser18Ser) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- rs1426951446
- gnomAD 1-147759185-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 5.92
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available