T118I (p.Thr118Ile) variant of LYST (Lysosomal-trafficking regulator)
T118I (p.Thr118Ile) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T118I (p.Thr118Ile) variant details
- p.Thr118Ile
- rs1475563507
- ClinGen CA344965396
- ClinVar RCV003051428
- TOPMed rs1475563507
- Uncertain significance
- Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.07
- CADD 22.80
- PolyPhen-2 0.16
- SIFT 0.03
- ClinVar: Uncertain significance (Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)