M84T (p.Met84Thr) variant of AQP4 (Aquaporin-4)
M84T (p.Met84Thr) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
M84T (p.Met84Thr) variant details
- p.Met84Thr
- ExAC rs779786050
- TOPMed rs779786050
- gnomAD rs779786050
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.82
- CADD 23.80
- PolyPhen-2 0.37
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available