P65H (p.Pro65His) variant of AQP4 (Aquaporin-4)
P65H (p.Pro65His) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P65H (p.Pro65His) variant details
- p.Pro65His
- gnomAD 18-26862435-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.53
- MetaLR 0.69
- MetaSVM 0.44
- CADD 24.00
- PolyPhen-2 0.89
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available