G47D (p.Gly47Asp) variant of SLC6A19 (Q695T7)
G47D (p.Gly47Asp) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- TOPMed rs1387797157
- Missense
- Variant Prioritization Score for Impact Estimate 0.979
- ESM-1b 1.00
- AlphaMissense 0.95
- Structural context available