M39K (p.Met39Lys) variant of LYST (Lysosomal-trafficking regulator)
M39K (p.Met39Lys) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
M39K (p.Met39Lys) variant details
- p.Met39Lys
- rs1364323740
- ClinGen CA344968957
- ClinVar RCV002876720
- ClinVar RCV004571412
- Uncertain significance
- Chédiak-Higashi syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.65
- CADD 25.50
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome; Inborn genetic diseases)
- 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)