S63N (p.Ser63Asn) variant of AQP2 (Aquaporin-2)
S63N (p.Ser63Asn) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
S63N (p.Ser63Asn) variant details
- p.Ser63Asn
- ExAC rs746416707
- TOPMed rs746416707
- gnomAD rs746416707
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.71
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available