R27* (p.Arg27Ter) variant of ADD1 (Alpha-adducin)
R27* (p.Arg27Ter) in ADD1 (Alpha-adducin) 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.
R27* (p.Arg27Ter) variant details
- p.Arg27Ter
- cosmic curated COSV10608
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.44
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available