R141* (p.Arg141Ter) variant of LYST (Lysosomal-trafficking regulator)
R141* (p.Arg141Ter) in LYST (Lysosomal-trafficking regulator) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R141* (p.Arg141Ter) variant details
- p.Arg141Ter
- rs201847422
- NCI-TCGA Cosmic COSV6770
- cosmic curated COSV67707
- 1000Genomes rs201847422
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available