E22A (p.Glu22Ala) variant of SLC6A19 (Q695T7)
E22A (p.Glu22Ala) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E22A (p.Glu22Ala) variant details
- p.Glu22Ala
- gnomAD 5-1201715-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 21.30
- PolyPhen-2 0.06
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available