A32T (p.Ala32Thr) variant of AQP5 (Aquaporin-5)
A32T (p.Ala32Thr) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- gnomAD 12-49962111-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.53
- CADD 23.00
- PolyPhen-2 0.18
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available