Q28E (p.Gln28Glu) variant of GABRA1 (P14867)
Q28E (p.Gln28Glu) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Q28E (p.Gln28Glu) variant details
- p.Gln28Glu
- gnomAD 5-161854165-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.36
- MetaLR 0.35
- MetaSVM -0.64
- CADD 21.60
- PolyPhen-2 0.58
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available