D51E (p.Asp51Glu) variant of GABRA1 (P14867)
D51E (p.Asp51Glu) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- gnomAD 5-161854236-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.47
- MetaLR 0.24
- MetaSVM -0.95
- CADD 15.30
- PolyPhen-2 0.14
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available