R24del (p.Arg24del) variant of GABRA1 (P14867)
R24del (p.Arg24del) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R24del (p.Arg24del) variant details
- gnomAD 5-161850877-GGAA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 19.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available