H66Y (p.His66Tyr) variant of AQP2 (Aquaporin-2)
H66Y (p.His66Tyr) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
H66Y (p.His66Tyr) variant details
- p.His66Tyr
- gnomAD rs1256982565
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.94
- CADD 24.00
- PolyPhen-2 0.92
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available