G78D (p.Gly78Asp) variant of SLC6A1 (P30531)
G78D (p.Gly78Asp) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G78D (p.Gly78Asp) variant details
- p.Gly78Asp
- gnomAD 3-11017444-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.92
- CADD 28.40
- Population evidence available
- Structural context available
- Literature evidence available