A1454D (p.Ala1454Asp) variant of LYST (Lysosomal-trafficking regulator)
A1454D (p.Ala1454Asp) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
A1454D (p.Ala1454Asp) variant details
- p.Ala1454Asp
- rs80338655
- ClinGen CA344854
- ClinVar RCV000055734
- Ensembl rs80338655
- Likely pathogenic
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.99
- MetaLR 0.44
- MetaSVM -0.20
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.75
- ClinVar: Likely pathogenic (Chédiak-Higashi syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)