K125N (p.Lys125Asn) variant of WRN (Q14191)
K125N (p.Lys125Asn) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in WRN. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
K125N (p.Lys125Asn) variant details
- p.Lys125Asn
- rs387906337
- ClinVar RCV000005786
- UniProt VAR 026588
- Ensembl rs387906337
- no classification for the single variant
- in WRN
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- MutPred 0.79
- ClinVar: no classification for the single variant (in WRN)
- EBI: Pathogenic (in WRN)
- UniProt: Pathogenic (in WRN)
- Structural context available
- Cited in: The spectrum of WRN mutations in Werner syndrome patients. (PMID 16673358)
- Cited in: Werner Syndrome. (PMID 20301687)