R45* (p.Arg45Ter) variant of PTPN2 (P17706)
R45* (p.Arg45Ter) in PTPN2 (P17706) 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.
R45* (p.Arg45Ter) variant details
- p.Arg45Ter
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- TOPMed rs2043702082
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 38.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available