A39G (p.Ala39Gly) variant of SLC6A19 (Q695T7)
A39G (p.Ala39Gly) in SLC6A19 (Q695T7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
A39G (p.Ala39Gly) variant details
- p.Ala39Gly
- 1000Genomes rs569360274
- ExAC rs569360274
- TOPMed rs569360274
- gnomAD rs569360274
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- ESM-1b 1.00
- AlphaMissense 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available