P62T (p.Pro62Thr) variant of AQP5 (Aquaporin-5)
P62T (p.Pro62Thr) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P62T (p.Pro62Thr) variant details
- p.Pro62Thr
- ExAC rs771368210
- gnomAD rs771368210
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.36
- CADD 17.60
- PolyPhen-2 0.23
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.2e-05)
- Structural context available