F22L (p.Phe22Leu) variant of SLC19A3 (Thiamine transporter 2)
F22L (p.Phe22Leu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
F22L (p.Phe22Leu) variant details
- p.Phe22Leu
- TOPMed rs1695727018
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- ESM-1b 1.00
- AlphaMissense 0.87
- Structural context available