T94I (p.Thr94Ile) variant of LYST (Lysosomal-trafficking regulator)
T94I (p.Thr94Ile) in LYST (Lysosomal-trafficking regulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Chédiak-Higashi syndrome; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T94I (p.Thr94Ile) variant details
- p.Thr94Ile
- rs777389303
- ClinGen CA205750
- cosmic curated COSV67705
- ClinVar RCV000192732
- Conflicting interpretations
- Chédiak-Higashi syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.13
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (Chédiak-Higashi syndrome; not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- 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)