E33G (p.Glu33Gly) variant of LYST (Lysosomal-trafficking regulator)
E33G (p.Glu33Gly) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- rs772935284
- ClinGen CA1467732
- ClinVar RCV002943675
- ExAC rs772935284
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.17
- CADD 25.80
- PolyPhen-2 0.79
- SIFT 0.00
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)