R24* (p.Arg24Ter) variant of GABRA1 (P14867)
R24* (p.Arg24Ter) in GABRA1 (P14867) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R24* (p.Arg24Ter) variant details
- p.Arg24Ter
- cosmic curated COSV50112
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available