A40V (p.Ala40Val) variant of LYST (Lysosomal-trafficking regulator)
A40V (p.Ala40Val) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs538522923
- ClinGen CA1467725
- ClinVar RCV001944891
- ExAC rs538522923
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.15
- CADD 22.90
- PolyPhen-2 0.10
- SIFT 0.34
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)