K37N (p.Lys37Asn) variant of WRN (Q14191)
K37N (p.Lys37Asn) in WRN (Q14191) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Werner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K37N (p.Lys37Asn) variant details
- p.Lys37Asn
- rs771433734
- ClinGen CA4703986
- ClinVar RCV003011812
- ExAC rs771433734
- Likely pathogenic
- Werner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.25
- CADD 31.00
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Likely pathogenic (Werner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)