A32T (p.Ala32Thr) variant of AQP1 (Aquaporin-1)
A32T (p.Ala32Thr) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- gnomAD 7-30912003-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.76
- MetaLR 0.87
- MetaSVM 0.78
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available