A26R (p.Ala26Arg) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
A26R (p.Ala26Arg) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes published literature and structural context.
A26R (p.Ala26Arg) variant details
- p.Ala26Arg
- rs775052433
- ClinGen CA044217
- ClinVar RCV004016923
- Likely benign
- Frameshift
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)