C3F (p.Cys3Phe) variant of SLC19A3 (Thiamine transporter 2)
C3F (p.Cys3Phe) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
C3F (p.Cys3Phe) variant details
- p.Cys3Phe
- Ensembl rs984355953
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.07
- Structural context available