R44G (p.Arg44Gly) variant of GABRA1 (P14867)
R44G (p.Arg44Gly) in GABRA1 (P14867) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R44G (p.Arg44Gly) variant details
- p.Arg44Gly
- gnomAD 5-161854210-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available