G105S (p.Gly105Ser) variant of UMOD (Uromodulin)
G105S (p.Gly105Ser) 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 0.29 / 1. The record also includes population frequency data and structural context.
G105S (p.Gly105Ser) variant details
- p.Gly105Ser
- ExAC rs747592262
- TOPMed rs747592262
- gnomAD rs747592262
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.26
- CADD 17.30
- PolyPhen-2 0.33
- SIFT 0.11
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available