L100F (p.Leu100Phe) variant of LYST (Lysosomal-trafficking regulator)
L100F (p.Leu100Phe) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Chédiak-Higashi syndrome. The record also includes structural context.
L100F (p.Leu100Phe) variant details
- p.Leu100Phe
- ESP rs372351602
- ExAC rs372351602
- TOPMed rs372351602
- gnomAD rs372351602
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- UniProt: Uncertain significance
- Structural context available