Q67* (p.Gln67Ter) variant of SHMT2 (P34897)
Q67* (p.Gln67Ter) in SHMT2 (P34897) 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 0.91 / 1. The record also includes population frequency data and structural context.
Q67* (p.Gln67Ter) variant details
- p.Gln67Ter
- NCI-TCGA TCGA novel
- TOPMed rs2037291550
- gnomAD rs2037291550
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.914
- CADD 39.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available