T49K (p.Thr49Lys) variant of UMOD (Uromodulin)
T49K (p.Thr49Lys) 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 0.41 / 1. The record also includes population frequency data and structural context.
T49K (p.Thr49Lys) variant details
- p.Thr49Lys
- TOPMed rs1172018079
- gnomAD rs1172018079
- cosmic curated COSV56774
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.44
- CADD 13.30
- PolyPhen-2 0.67
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available