D51G (p.Asp51Gly) variant of GABRA1 (P14867)
D51G (p.Asp51Gly) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
D51G (p.Asp51Gly) variant details
- p.Asp51Gly
- ExAC rs745932197
- gnomAD rs745932197
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.77
- CADD 27.50
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available