H123R (p.His123Arg) variant of LYST (Lysosomal-trafficking regulator)
H123R (p.His123Arg) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Autoinflammatory syndrome; Chédiak-Higashi syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
H123R (p.His123Arg) variant details
- p.His123Arg
- rs3768067
- ClinGen CA1467642
- cosmic curated COSV67704
- ClinVar RCV000323413
- Benign/Likely benign
- Autoinflammatory syndrome; Chédiak-Higashi syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- CADD 17.80
- ClinVar: Benign/Likely benign (Autoinflammatory syndrome; Chédiak-Higashi syndrome; not specifi)
- EBI: Benign (in dbSNP:rs3768067)
- UniProt: Benign (in dbSNP:rs3768067)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)