D58Y (p.Asp58Tyr) variant of WRN (Q14191)
D58Y (p.Asp58Tyr) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D58Y (p.Asp58Tyr) variant details
- p.Asp58Tyr
- rs773803207
- ClinGen CA370912610
- ClinVar RCV001066755
- ExAC rs773803207
- Uncertain significance
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.23
- CADD 25.90
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (Werner syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)