T56A (p.Thr56Ala) variant of AQP4 (Aquaporin-4)
T56A (p.Thr56Ala) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T56A (p.Thr56Ala) variant details
- p.Thr56Ala
- gnomAD 18-26862463-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.38
- MetaLR 0.45
- MetaSVM -0.31
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available