T51I (p.Thr51Ile) variant of UMOD (Uromodulin)
T51I (p.Thr51Ile) 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 0.40 / 1. The record also includes population frequency data and structural context.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- ExAC rs778464982
- TOPMed rs778464982
- gnomAD rs778464982
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- CADD 11.80
- PolyPhen-2 0.01
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available