S707G (p.Ser707Gly) variant of WRN (Q14191)
S707G (p.Ser707Gly) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S707G (p.Ser707Gly) variant details
- p.Ser707Gly
- rs761240520
- ClinGen CA4704651
- ClinVar RCV000551629
- ExAC rs761240520
- Pathogenic/Likely pathogenic
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.06
- CADD 24.70
- PolyPhen-2 0.19
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Werner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)