R18Q (p.Arg18Gln) variant of LYST (Lysosomal-trafficking regulator)
R18Q (p.Arg18Gln) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R18Q (p.Arg18Gln) variant details
- p.Arg18Gln
- rs768197548
- ClinGen CA1467745
- ClinVar RCV001369196
- ExAC rs768197548
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.03
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)