H48R (p.His48Arg) variant of LYST (Lysosomal-trafficking regulator)
H48R (p.His48Arg) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Chédiak-Higashi syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H48R (p.His48Arg) variant details
- p.His48Arg
- rs200132460
- ClinGen CA1467721
- ClinVar RCV000629222
- ClinVar RCV001311684
- Conflicting interpretations
- Chédiak-Higashi syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.10
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Conflicting classifications of pathogenicity (Chédiak-Higashi syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)