L42V (p.Leu42Val) variant of LYST (Lysosomal-trafficking regulator)
L42V (p.Leu42Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L42V (p.Leu42Val) variant details
- p.Leu42Val
- rs1229357698
- ClinGen CA344968887
- ClinVar RCV001878145
- ClinVar RCV004793572
- Uncertain significance
- Chédiak-Higashi syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.38
- CADD 25.40
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)