R116* (p.Arg116Ter) variant of PKLR (Pyruvate kinase PKLR)
R116* (p.Arg116Ter) in PKLR (Pyruvate kinase PKLR) 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 0.40 / 1. The record also includes population frequency data and structural context.
R116* (p.Arg116Ter) variant details
- p.Arg116Ter
- rs971962553
- TOPMed rs971962553
- NCI-TCGA Cosmic COSV6136
- cosmic curated COSV61360
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available