T49R (p.Thr49Arg) variant of UMOD (Uromodulin)
T49R (p.Thr49Arg) 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 0.38 / 1. The record also includes population frequency data and structural context.
T49R (p.Thr49Arg) variant details
- p.Thr49Arg
- TOPMed rs1172018079
- gnomAD rs1172018079
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.38
- CADD 12.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available