A38V (p.Ala38Val) variant of AQP5 (Aquaporin-5)
A38V (p.Ala38Val) in AQP5 (Aquaporin-5) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- ExAC rs398123054
- TOPMed rs398123054
- gnomAD rs398123054
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.30
- CADD 18.90
- PolyPhen-2 0.07
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available