G103R (p.Gly103Arg) variant of UMOD (Uromodulin)
G103R (p.Gly103Arg) in UMOD (Uromodulin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ADTKD1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G103R (p.Gly103Arg) variant details
- p.Gly103Arg
- TOPMed rs28934584
- gnomAD rs28934584
- Pathogenic
- in ADTKD1
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.38
- AlphaMissense 0.10
- MetaLR 0.48
- MetaSVM -0.36
- CADD 22.10
- PolyPhen-2 0.57
- EBI: Pathogenic (in ADTKD1)
- UniProt: Pathogenic (in ADTKD1)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available