D12G (p.Asp12Gly) variant of SLC6A19 (Q695T7)
D12G (p.Asp12Gly) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
D12G (p.Asp12Gly) variant details
- p.Asp12Gly
- TOPMed rs924524584
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- ESM-1b 0.00
- AlphaMissense 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available