V93A (p.Val93Ala) variant of UMOD (Uromodulin)
V93A (p.Val93Ala) in UMOD (Uromodulin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
V93A (p.Val93Ala) variant details
- p.Val93Ala
- Ensembl rs2141676565
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.31
- CADD 4.25
- PolyPhen-2 0.00
- SIFT 0.40
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available