V24F (p.Val24Phe) variant of LYST (Lysosomal-trafficking regulator)
V24F (p.Val24Phe) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V24F (p.Val24Phe) variant details
- p.Val24Phe
- rs201023832
- ClinGen CA1467739
- ClinVar RCV002785418
- ClinVar RCV002794972
- Uncertain significance
- Chédiak-Higashi syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.22
- CADD 23.30
- PolyPhen-2 0.37
- SIFT 0.01
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)