R148* (p.Arg148Ter) variant of SHTN1 (Shootin-1)
R148* (p.Arg148Ter) in SHTN1 (Shootin-1) 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 0.88 / 1. The record also includes population frequency data and structural context.
R148* (p.Arg148Ter) variant details
- p.Arg148Ter
- rs1268622437
- NCI-TCGA Cosmic COSV5337
- cosmic curated COSV53379
- gnomAD rs1268622437
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 41.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available