K577M (p.Lys577Met) variant of WRN (Q14191)
K577M (p.Lys577Met) 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 0.81 / 1. The record also includes published literature and structural context.
K577M (p.Lys577Met) variant details
- p.Lys577Met
- rs121908448
- ClinGen CA253493
- ClinVar RCV000005785
- Ensembl rs121908448
- Pathogenic
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.99
- MetaLR 0.73
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Pathogenic (Werner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cellular Werner phenotypes in mice expressing a putative dominant-negative human WRN gene. (PMID 10628995)
- Cited in: Telomere instability in a human tumor cell line expressing a dominant-negative WRN protein. (PMID 12827497)