R114* (p.Arg114Ter) variant of GNAQ (P50148)
R114* (p.Arg114Ter) 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 0.77 / 1. The record also includes population frequency data and structural context.
R114* (p.Arg114Ter) variant details
- p.Arg114Ter
- NCI-TCGA Cosmic COSV5410
- NCI-TCGA Cosmic COSV9968
- ExAC rs759080789
- TOPMed rs759080789
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.772
- CADD 40.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available