D54E (p.Asp54Glu) variant of GABRA1 (P14867)
D54E (p.Asp54Glu) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
D54E (p.Asp54Glu) variant details
- p.Asp54Glu
- gnomAD 5-161854245-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.77
- MetaLR 0.64
- MetaSVM 0.20
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available