E22Q (p.Glu22Gln) variant of SLC6A19 (Q695T7)
E22Q (p.Glu22Gln) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E22Q (p.Glu22Gln) variant details
- p.Glu22Gln
- gnomAD 5-1201714-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.20
- PolyPhen-2 0.54
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available