D43E (p.Asp43Glu) variant of GABRG2 (P18507)
D43E (p.Asp43Glu) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- gnomAD 5-162000218-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0742
- CADD 0.45
- SIFT 0.75
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available