R8* (p.Arg8Ter) variant of MBP (Myelin basic protein)
R8* (p.Arg8Ter) in MBP (Myelin basic protein) 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 0.52 / 1. The record also includes population frequency data and structural context.
R8* (p.Arg8Ter) variant details
- p.Arg8Ter
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10059
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 35.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available