R62* (p.Arg62Ter) variant of TUBB3 (Tubulin beta-3 chain)
R62* (p.Arg62Ter) in TUBB3 (Tubulin beta-3 chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R62* (p.Arg62Ter) variant details
- p.Arg62Ter
- cosmic curated COSV59247
- TOPMed rs1423200485
- gnomAD rs1423200485
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 42.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available