R148* (p.Arg148Ter) variant of GNAQ (P50148)
R148* (p.Arg148Ter) in GNAQ (P50148) 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 0.58 / 1. The record also includes population frequency data and structural context.
R148* (p.Arg148Ter) variant details
- p.Arg148Ter
- NCI-TCGA Cosmic COSV5412
- Ensembl rs2118510514
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available