K85E (p.Lys85Glu) variant of LYST (Lysosomal-trafficking regulator)
K85E (p.Lys85Glu) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K85E (p.Lys85Glu) variant details
- p.Lys85Glu
- rs1451315699
- ClinGen CA344965915
- ClinVar RCV002621604
- TOPMed rs1451315699
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.32
- CADD 29.10
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)