I13M (p.Ile13Met) variant of SLC19A3 (Thiamine transporter 2)
I13M (p.Ile13Met) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
I13M (p.Ile13Met) variant details
- p.Ile13Met
- rs2106332726
- ClinGen CA350878079
- ClinVar RCV001763821
- Ensembl rs2106332726
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.61
- MetaSVM 0.13
- PolyPhen-2 0.92
- SIFT 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available