G23E (p.Gly23Glu) variant of GABRA1 (P14867)
G23E (p.Gly23Glu) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G23E (p.Gly23Glu) variant details
- p.Gly23Glu
- cosmic curated COSV50105
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.24
- CADD 20.40
- PolyPhen-2 0.42
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available