A128D (p.Ala128Asp) variant of LYST (Lysosomal-trafficking regulator)
A128D (p.Ala128Asp) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A128D (p.Ala128Asp) variant details
- p.Ala128Asp
- rs770962889
- ClinGen CA1467641
- ClinVar RCV002022608
- ExAC rs770962889
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.06
- CADD 16.30
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)