H66D (p.His66Asp) variant of AQP2 (Aquaporin-2)
H66D (p.His66Asp) 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, published literature, and structural context.
H66D (p.His66Asp) variant details
- p.His66Asp
- gnomAD 12-49951026-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.94
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available