K36* (p.Lys36Ter) variant of GABRA1 (P14867)
K36* (p.Lys36Ter) in GABRA1 (P14867) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K36* (p.Lys36Ter) variant details
- p.Lys36Ter
- gnomAD 5-161850809-C-CGA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 11.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available