A39V (p.Ala39Val) variant of UMOD (Uromodulin)
A39V (p.Ala39Val) 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 0.80 / 1. The record also includes population frequency data and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- ExAC rs762973149
- gnomAD rs762973149
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.83
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available