C258R (p.Cys258Arg) variant of LYST (Lysosomal-trafficking regulator)
C258R (p.Cys258Arg) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
C258R (p.Cys258Arg) variant details
- p.Cys258Arg
- rs797044534
- ClinGen CA347084
- ClinVar RCV000192043
- TOPMed rs797044534
- Likely pathogenic
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.92
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Chédiak-Higashi syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)