R31S (p.Arg31Ser) variant of AQP7 (Aquaporin-7)
R31S (p.Arg31Ser) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R31S (p.Arg31Ser) variant details
- p.Arg31Ser
- ExAC rs776252656
- TOPMed rs776252656
- gnomAD rs776252656
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.20
- CADD 9.40
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available