A65T (p.Ala65Thr) variant of AQP2 (Aquaporin-2)
A65T (p.Ala65Thr) in AQP2 (Aquaporin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
A65T (p.Ala65Thr) variant details
- p.Ala65Thr
- 1000Genomes rs544999593
- ExAC rs544999593
- gnomAD rs544999593
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.72
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available