G2V (p.Gly2Val) variant of UMOD (Uromodulin)
G2V (p.Gly2Val) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- Ensembl rs1555487932
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.45
- CADD 13.60
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available