S40F (p.Ser40Phe) variant of SLC19A3 (Thiamine transporter 2)
S40F (p.Ser40Phe) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
S40F (p.Ser40Phe) variant details
- p.Ser40Phe
- cosmic curated COSV51454
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- ESM-1b 0.48
- AlphaMissense 0.16
- Structural context available