R211* (p.Arg211Ter) variant of VPS35 (Q96QK1)
R211* (p.Arg211Ter) in VPS35 (Q96QK1) 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.
R211* (p.Arg211Ter) variant details
- p.Arg211Ter
- NCI-TCGA Cosmic COSV1001
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 34.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available