S86S (p.Ser86Ser) variant of GJA5 (Gap junction alpha-5 protein)
S86S (p.Ser86Ser) in GJA5 (Gap junction alpha-5 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
S86S (p.Ser86Ser) variant details
- p.Ser86Ser
- rs782415947
- gnomAD 1-147758981-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 12.60
- Population evidence available
- Literature evidence available