R50G (p.Arg50Gly) variant of LYST (Lysosomal-trafficking regulator)
R50G (p.Arg50Gly) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R50G (p.Arg50Gly) variant details
- p.Arg50Gly
- rs80338643
- ClinGen CA344968694
- ClinVar RCV001047342
- TOPMed rs80338643
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.70
- AlphaMissense 0.87
- MetaLR 0.63
- MetaSVM 0.31
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-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)