N45H (p.Asn45His) variant of SLC19A3 (Thiamine transporter 2)
N45H (p.Asn45His) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes structural context.
N45H (p.Asn45His) variant details
- p.Asn45His
- cosmic curated COSV51451
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- ESM-1b 1.00
- AlphaMissense 0.21
- Structural context available