G52G (p.Gly52Gly) variant of GABRA1 (P14867)
G52G (p.Gly52Gly) in GABRA1 (P14867) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
G52G (p.Gly52Gly) variant details
- p.Gly52Gly
- rs1129647
- gnomAD 5-161854239-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.156
- CADD 8.56
- Population evidence available
- Structural context available
- Cited in: Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance of SCN1A… (PMID 27245092)
- Cited in: Association study of GABA system genes polymorphisms with amphetamine-induced psychotic disorder in a Han Chinese… (PMID 27080428)