D68Y (p.Asp68Tyr) variant of WRN (Q14191)
D68Y (p.Asp68Tyr) 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 0.71 / 1. The record also includes published literature and structural context.
D68Y (p.Asp68Tyr) variant details
- p.Asp68Tyr
- rs2130005767
- ClinGen CA370912738
- ClinVar RCV002001182
- Ensembl rs2130005767
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- MutPred 0.71
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)