Q28Q (p.Gln28Gln) variant of GABRA1 (P14867)
Q28Q (p.Gln28Gln) in GABRA1 (P14867) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q28Q (p.Gln28Gln) variant details
- p.Gln28Gln
- rs1264701196
- gnomAD 5-161854167-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.174
- CADD 4.57
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available