E20D (p.Glu20Asp) variant of SLC6A19 (Q695T7)
E20D (p.Glu20Asp) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- gnomAD 5-1201710-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 6.05
- PolyPhen-2 0.00
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available