R67* (p.Arg67Ter) variant of SLC25A14 (O95258)
R67* (p.Arg67Ter) in SLC25A14 (O95258) 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 0.44 / 1. The record also includes population frequency data and structural context.
R67* (p.Arg67Ter) variant details
- p.Arg67Ter
- NCI-TCGA TCGA novel
- TOPMed rs2033447213
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 34.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available