C74G (p.Cys74Gly) variant of SLC6A1 (P30531)
C74G (p.Cys74Gly) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C74G (p.Cys74Gly) variant details
- p.Cys74Gly
- gnomAD 3-11017431-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available