R111* (p.Arg111Ter) variant of GABRB3 (P28472)
R111* (p.Arg111Ter) in GABRB3 (P28472) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
R111* (p.Arg111Ter) variant details
- p.Arg111Ter
- rs942355738
- ClinGen CA268161499
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10015
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available