P57H (p.Pro57His) variant of SLC19A3 (Thiamine transporter 2)
P57H (p.Pro57His) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
P57H (p.Pro57His) variant details
- p.Pro57His
- cosmic curated COSV10457
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- ESM-1b 1.00
- AlphaMissense 0.70
- Structural context available