S112* (p.Ser112Ter) variant of LYST (Lysosomal-trafficking regulator)
S112* (p.Ser112Ter) 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 0.68 / 1. The record also includes population frequency data and structural context.
S112* (p.Ser112Ter) variant details
- p.Ser112Ter
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available