L76F (p.Leu76Phe) variant of LYST (Lysosomal-trafficking regulator)
L76F (p.Leu76Phe) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L76F (p.Leu76Phe) variant details
- p.Leu76Phe
- Ensembl rs1558289247
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.38
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available