Q25R (p.Gln25Arg) variant of LYST (Lysosomal-trafficking regulator)
Q25R (p.Gln25Arg) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q25R (p.Gln25Arg) variant details
- p.Gln25Arg
- rs767571020
- ClinGen CA1467737
- ClinVar RCV002624507
- ExAC rs767571020
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.38
- SIFT 0.01
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)