T86M (p.Thr86Met) variant of UMOD (Uromodulin)
T86M (p.Thr86Met) in UMOD (Uromodulin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T86M (p.Thr86Met) variant details
- p.Thr86Met
- ESP rs376787639
- ExAC rs376787639
- TOPMed rs376787639
- gnomAD rs376787639
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.59
- CADD 16.30
- PolyPhen-2 0.20
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available