G41A (p.Gly41Ala) variant of SLC19A3 (Thiamine transporter 2)
G41A (p.Gly41Ala) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G41A (p.Gly41Ala) variant details
- p.Gly41Ala
- rs778816786
- ClinGen CA350878086
- ClinVar RCV001941887
- NCI-TCGA TCGA novel
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.77
- MetaLR 0.91
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)