S63S (p.Ser63Ser) variant of AQP2 (Aquaporin-2)
S63S (p.Ser63Ser) in AQP2 (Aquaporin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S63S (p.Ser63Ser) variant details
- p.Ser63Ser
- rs200279968
- gnomAD 12-49951019-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0839
- CADD 0.47
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available
- Literature evidence available