H95Y (p.His95Tyr) variant of AQP4 (Aquaporin-4)
H95Y (p.His95Tyr) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
H95Y (p.His95Tyr) variant details
- p.His95Tyr
- ExAC rs761699060
- gnomAD rs761699060
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.92
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available