K14R (p.Lys14Arg) variant of WRN (Q14191)
K14R (p.Lys14Arg) in WRN (Q14191) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
K14R (p.Lys14Arg) variant details
- p.Lys14Arg
- rs2487266223
- ClinGen CA2695199659
- ClinVar RCV003464875
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Werner Syndrome. (PMID 20301687)
- Cited in: Clinical utility gene card for: Werner syndrome. (PMID 22258520)