W2* (p.Trp2Ter) variant of GABRB3 (P28472)
W2* (p.Trp2Ter) 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 0.13 / 1. The record also includes population frequency data and structural context.
W2* (p.Trp2Ter) variant details
- p.Trp2Ter
- rs1891196840
- ClinGen CA391465700
- ClinVar RCV002825095
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 6.36
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available