I81V (p.Ile81Val) variant of AQP4 (Aquaporin-4)
I81V (p.Ile81Val) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
I81V (p.Ile81Val) variant details
- p.Ile81Val
- ExAC rs778332411
- TOPMed rs778332411
- gnomAD rs778332411
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.42
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available