R50* (p.Arg50Ter) variant of LYST (Lysosomal-trafficking regulator)
R50* (p.Arg50Ter) in LYST (Lysosomal-trafficking regulator) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
R50* (p.Arg50Ter) variant details
- p.Arg50Ter
- rs80338643
- ClinGen CA116450
- ClinVar RCV000004017
- ClinVar RCV000055722
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.69
- AlphaMissense 0.87
- MetaLR 0.63
- MetaSVM 0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. (PMID 9215680)
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)