Q44* (p.Gln44Ter) variant of LYST (Lysosomal-trafficking regulator)
Q44* (p.Gln44Ter) in LYST (Lysosomal-trafficking regulator) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- rs756716492
- ClinGen CA1467722
- ClinVar RCV003523867
- ExAC rs756716492
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.627
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Cited in: Chediak-Higashi Syndrome. (PMID 20301751)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)