T62A (p.Thr62Ala) variant of UMOD (Uromodulin)
T62A (p.Thr62Ala) in UMOD (Uromodulin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T62A (p.Thr62Ala) variant details
- p.Thr62Ala
- ESP rs143248111
- ExAC rs143248111
- TOPMed rs143248111
- gnomAD rs143248111
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.34
- CADD 0.00
- PolyPhen-2 0.03
- SIFT 0.68
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available