W54* (p.Trp54Ter) variant of PTH (Parathyroid hormone)
W54* (p.Trp54Ter) in PTH (Parathyroid hormone) 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 0.86 / 1. The record also includes population frequency data and structural context.
W54* (p.Trp54Ter) variant details
- p.Trp54Ter
- NCI-TCGA Cosmic COSV5637
- cosmic curated COSV56378
- Ensembl rs2134093056
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.864
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available