D47E (p.Asp47Glu) variant of GABRA1 (P14867)
D47E (p.Asp47Glu) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D47E (p.Asp47Glu) variant details
- p.Asp47Glu
- gnomAD 5-161854224-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.65
- MetaLR 0.53
- MetaSVM 0.03
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available