T44M (p.Thr44Met) variant of AQP1 (Aquaporin-1)
T44M (p.Thr44Met) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
T44M (p.Thr44Met) variant details
- p.Thr44Met
- ExAC rs756198958
- TOPMed rs756198958
- gnomAD rs756198958
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.48
- MetaLR 0.86
- MetaSVM 0.54
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available