T6A (p.Thr6Ala) variant of SLC19A3 (Thiamine transporter 2)
T6A (p.Thr6Ala) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
T6A (p.Thr6Ala) variant details
- p.Thr6Ala
- ESP rs368949246
- TOPMed rs368949246
- gnomAD rs368949246
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.41
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available