P35S (p.Pro35Ser) variant of AQP2 (Aquaporin-2)
P35S (p.Pro35Ser) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- ExAC rs746338782
- gnomAD rs746338782
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.41
- CADD 17.90
- PolyPhen-2 0.10
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available