L2379P (p.Leu2379Pro) variant of LYST (Lysosomal-trafficking regulator)
L2379P (p.Leu2379Pro) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Chédiak-Higashi syndrome. The record also includes published literature and structural context.
L2379P (p.Leu2379Pro) variant details
- p.Leu2379Pro
- rs2527761995
- ClinGen CA344934838
- ClinVar RCV002254228
- Likely pathogenic
- Chédiak-Higashi syndrome
- Missense
- ClinVar: Likely pathogenic (Chédiak-Higashi syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)