R57* (p.Arg57Ter) variant of SMAD2 (SMAD family member 2)
R57* (p.Arg57Ter) in SMAD2 (SMAD family member 2) 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 0.71 / 1. The record also includes population frequency data and structural context.
R57* (p.Arg57Ter) variant details
- p.Arg57Ter
- NCI-TCGA Cosmic COSV5099
- cosmic curated COSV50994
- gnomAD rs2033448263
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available