V109A (p.Val109Ala) variant of UMOD (Uromodulin)
V109A (p.Val109Ala) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V109A (p.Val109Ala) variant details
- p.Val109Ala
- cosmic curated COSV56773
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.66
- CADD 23.80
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available