C75Y (p.Cys75Tyr) variant of AQP2 (Aquaporin-2)
C75Y (p.Cys75Tyr) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
C75Y (p.Cys75Tyr) variant details
- p.Cys75Tyr
- TOPMed rs144443773
- gnomAD rs144443773
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.10
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.29
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available