P67Q (p.Pro67Gln) variant of AQP4 (Aquaporin-4)
P67Q (p.Pro67Gln) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P67Q (p.Pro67Gln) variant details
- p.Pro67Gln
- gnomAD 18-26862429-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.56
- MetaLR 0.55
- MetaSVM 0.09
- CADD 23.20
- PolyPhen-2 0.39
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available