Q132R (p.Gln132Arg) variant of LYST (Lysosomal-trafficking regulator)
Q132R (p.Gln132Arg) 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 Inborn genetic diseases; Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q132R (p.Gln132Arg) variant details
- p.Gln132Arg
- rs2527132523
- ClinGen CA344965304
- ClinVar RCV003047738
- ClinVar RCV003047739
- Uncertain significance
- Inborn genetic diseases; Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- CADD 18.30
- PolyPhen-2 0.09
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases; Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)