F140L (p.Phe140Leu) variant of LYST (Lysosomal-trafficking regulator)
F140L (p.Phe140Leu) 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 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
F140L (p.Phe140Leu) variant details
- p.Phe140Leu
- rs754991654
- ClinGen CA1467635
- ClinVar RCV001060555
- ExAC rs754991654
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.03
- CADD 9.49
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- 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)