Y63N (p.Tyr63Asn) variant of SLC19A3 (Thiamine transporter 2)
Y63N (p.Tyr63Asn) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Y63N (p.Tyr63Asn) variant details
- p.Tyr63Asn
- 1000Genomes rs144817990
- ESP rs144817990
- ExAC rs144817990
- TOPMed rs144817990
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- ESM-1b 1.00
- AlphaMissense 0.20
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available