Q1229L (p.Gln1229Leu) variant of WRN (Q14191)
Q1229L (p.Gln1229Leu) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Werner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
Q1229L (p.Gln1229Leu) variant details
- p.Gln1229Leu
- rs369158322
- ClinGen CA253490
- ClinVar RCV000005783
- ESP rs369158322
- Pathogenic
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- AlphaMissense 0.08
- MetaLR 0.13
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Pathogenic (Werner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Werner syndrome: characterization of mutations in the WRN gene in an affected family. (PMID 9450180)
- Cited in: Werner Syndrome. (PMID 20301687)