T62R (p.Thr62Arg) variant of AQP4 (Aquaporin-4)
T62R (p.Thr62Arg) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T62R (p.Thr62Arg) variant details
- p.Thr62Arg
- ExAC rs754624399
- TOPMed rs754624399
- gnomAD rs754624399
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.28
- CADD 0.10
- PolyPhen-2 0.06
- SIFT 0.35
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available