G3725R (p.Gly3725Arg) variant of LYST (Lysosomal-trafficking regulator)
G3725R (p.Gly3725Arg) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
G3725R (p.Gly3725Arg) variant details
- p.Gly3725Arg
- rs797044542
- ClinGen CA347123
- ClinVar RCV000192052
- Ensembl rs797044542
- Likely pathogenic
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- AlphaMissense 1.00
- MetaLR 0.38
- MetaSVM -0.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Likely pathogenic (Chédiak-Higashi syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)