R105* (p.Arg105Ter) variant of TUBA1A (Tubulin alpha-1A chain)
R105* (p.Arg105Ter) in TUBA1A (Tubulin alpha-1A chain) 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 0.58 / 1. The record also includes population frequency data and structural context.
R105* (p.Arg105Ter) variant details
- p.Arg105Ter
- rs1237540680
- gnomAD rs1237540680
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.581
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the HGDP:BIAKA population (allele frequency 0.32)
- Structural context available