E27A (p.Glu27Ala) variant of SLC6A19 (Q695T7)
E27A (p.Glu27Ala) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
E27A (p.Glu27Ala) variant details
- p.Glu27Ala
- TOPMed rs1745705144
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- ESM-1b 1.00
- AlphaMissense 0.08
- Structural context available