D95E (p.Asp95Glu) variant of LYST (Lysosomal-trafficking regulator)
D95E (p.Asp95Glu) 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 Autoinflammatory syndrome; not provided; Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D95E (p.Asp95Glu) variant details
- p.Asp95Glu
- rs747965676
- ClinGen CA1467654
- ClinVar RCV000706487
- ClinVar RCV001759421
- Uncertain significance
- Autoinflammatory syndrome; not provided; Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.82
- SIFT 0.17
- ClinVar: Uncertain significance (Autoinflammatory syndrome; not provided; Chédiak-Higashi syndrom)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)