R30K (p.Arg30Lys) variant of UMOD (Uromodulin)
R30K (p.Arg30Lys) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R30K (p.Arg30Lys) variant details
- p.Arg30Lys
- cosmic curated COSV56776
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.46
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available