S17F (p.Ser17Phe) variant of SLC6A19 (Q695T7)
S17F (p.Ser17Phe) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- ExAC rs754779609
- gnomAD rs754779609
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- ESM-1b 0.75
- AlphaMissense 0.43
- Structural context available