A70V (p.Ala70Val) variant of UMOD (Uromodulin)
A70V (p.Ala70Val) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- ExAC rs753187242
- gnomAD rs753187242
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.15
- CADD 14.20
- PolyPhen-2 0.05
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available