D43Y (p.Asp43Tyr) variant of SLC6A1 (P30531)
D43Y (p.Asp43Tyr) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D43Y (p.Asp43Tyr) variant details
- p.Asp43Tyr
- gnomAD 3-11017338-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.51
- CADD 25.80
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available