P62A (p.Pro62Ala) variant of AQP5 (Aquaporin-5)
P62A (p.Pro62Ala) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P62A (p.Pro62Ala) variant details
- p.Pro62Ala
- ExAC rs771368210
- gnomAD rs771368210
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.34
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available