T42K (p.Thr42Lys) variant of UMOD (Uromodulin)
T42K (p.Thr42Lys) 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 0.28 / 1. The record also includes population frequency data and structural context.
T42K (p.Thr42Lys) variant details
- p.Thr42Lys
- ExAC rs773293322
- TOPMed rs773293322
- gnomAD rs773293322
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.43
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.82
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available