S5S (p.Ser5Ser) variant of GJA5 (Gap junction alpha-5 protein)
S5S (p.Ser5Ser) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- rs1164763532
- gnomAD 1-147759224-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 10.90
- Most common in the East Asian population (allele frequency 0.00019)
- Literature evidence available