P67R (p.Pro67Arg) variant of AQP4 (Aquaporin-4)
P67R (p.Pro67Arg) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P67R (p.Pro67Arg) variant details
- p.Pro67Arg
- gnomAD 18-26862429-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.68
- MetaLR 0.57
- MetaSVM 0.24
- CADD 24.20
- PolyPhen-2 0.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available