T37M (p.Thr37Met) variant of LYST (Lysosomal-trafficking regulator)
T37M (p.Thr37Met) 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 not provided; Chédiak-Higashi syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T37M (p.Thr37Met) variant details
- p.Thr37Met
- rs375106444
- ClinGen CA1467728
- cosmic curated COSV67713
- ClinVar RCV000348659
- Uncertain significance
- not provided; Chédiak-Higashi syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.13
- CADD 24.10
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Chédiak-Higashi syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)