R141Q (p.Arg141Gln) variant of LYST (Lysosomal-trafficking regulator)
R141Q (p.Arg141Gln) 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 not provided; Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R141Q (p.Arg141Gln) variant details
- p.Arg141Gln
- rs143601402
- ClinGen CA1467633
- ClinVar RCV000823752
- ClinVar RCV004792542
- Uncertain significance
- not provided; Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.05
- CADD 17.20
- PolyPhen-2 0.45
- SIFT 0.27
- ClinVar: Uncertain significance (not provided; Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)