T48K (p.Thr48Lys) variant of UMOD (Uromodulin)
T48K (p.Thr48Lys) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T48K (p.Thr48Lys) variant details
- p.Thr48Lys
- rs772008530
- ClinGen CA7939488
- ClinVar RCV003031339
- ExAC rs772008530
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.35
- CADD 22.70
- PolyPhen-2 0.64
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available