I42V (p.Ile42Val) variant of AQP5 (Aquaporin-5)
I42V (p.Ile42Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- TOPMed rs1244523495
- gnomAD rs1244523495
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.13
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available