I68V (p.Ile68Val) variant of AQP5 (Aquaporin-5)
I68V (p.Ile68Val) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I68V (p.Ile68Val) variant details
- p.Ile68Val
- TOPMed rs1947432734
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.16
- CADD 15.40
- PolyPhen-2 0.03
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available