G105R (p.Gly105Arg) variant of UMOD (Uromodulin)
G105R (p.Gly105Arg) in UMOD (Uromodulin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G105R (p.Gly105Arg) variant details
- p.Gly105Arg
- ExAC rs747592262
- TOPMed rs747592262
- gnomAD rs747592262
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.50
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.01
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available