C26Y (p.Cys26Tyr) variant of WRN (Q14191)
C26Y (p.Cys26Tyr) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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.
C26Y (p.Cys26Tyr) variant details
- p.Cys26Tyr
- rs550926459
- ClinGen CA4703964
- ClinVar RCV000633238
- 1000Genomes rs550926459
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.04
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)