Q115E (p.Gln115Glu) variant of LYST (Lysosomal-trafficking regulator)
Q115E (p.Gln115Glu) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q115E (p.Gln115Glu) variant details
- p.Gln115Glu
- rs775773934
- ClinGen CA1467645
- ClinVar RCV002015289
- ClinVar RCV005660310
- Uncertain significance
- Inborn genetic diseases; Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.03
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (Inborn genetic diseases; Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)