E22G (p.Glu22Gly) variant of SLC6A19 (Q695T7)
E22G (p.Glu22Gly) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E22G (p.Glu22Gly) variant details
- p.Glu22Gly
- gnomAD 5-1201715-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available