G574R (p.Gly574Arg) variant of WRN (Q14191)
G574R (p.Gly574Arg) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Werner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G574R (p.Gly574Arg) variant details
- p.Gly574Arg
- rs1304645785
- ClinGen CA370927173
- ClinVar RCV002917601
- TOPMed rs1304645785
- Pathogenic/Likely pathogenic
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.71
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Werner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)