I47M (p.Ile47Met) variant of AQP4 (Aquaporin-4)
I47M (p.Ile47Met) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
I47M (p.Ile47Met) variant details
- p.Ile47Met
- ExAC rs775791118
- TOPMed rs775791118
- gnomAD rs775791118
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.58
- CADD 19.50
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available