T31S (p.Thr31Ser) variant of AQP4 (Aquaporin-4)
T31S (p.Thr31Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
T31S (p.Thr31Ser) variant details
- p.Thr31Ser
- ExAC rs776354988
- TOPMed rs776354988
- gnomAD rs776354988
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.45
- CADD 22.20
- PolyPhen-2 0.40
- SIFT 0.46
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available