V47L (p.Val47Leu) variant of UMOD (Uromodulin)
V47L (p.Val47Leu) 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 0.25 / 1. The record also includes population frequency data and structural context.
V47L (p.Val47Leu) variant details
- p.Val47Leu
- TOPMed rs917737950
- gnomAD rs917737950
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.21
- CADD 3.07
- PolyPhen-2 0.01
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available