I36N (p.Ile36Asn) variant of SLC19A3 (Thiamine transporter 2)
I36N (p.Ile36Asn) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
I36N (p.Ile36Asn) variant details
- p.Ile36Asn
- cosmic curated COSV99296
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- ESM-1b 1.00
- AlphaMissense 0.31
- CADD 2.20
- Population evidence available
- Structural context available