T101S (p.Thr101Ser) variant of AQP4 (Aquaporin-4)
T101S (p.Thr101Ser) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
T101S (p.Thr101Ser) variant details
- p.Thr101Ser
- gnomAD rs1413183985
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.81
- CADD 27.60
- PolyPhen-2 0.86
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available