A74T (p.Ala74Thr) variant of AQP2 (Aquaporin-2)
A74T (p.Ala74Thr) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A74T (p.Ala74Thr) variant details
- p.Ala74Thr
- gnomAD 12-49951050-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.85
- CADD 29.10
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available