M27T (p.Met27Thr) variant of SLC19A3 (Thiamine transporter 2)
M27T (p.Met27Thr) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M27T (p.Met27Thr) variant details
- p.Met27Thr
- TOPMed rs1695726256
- gnomAD rs1695726256
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.20
- ESM-1b 0.92
- AlphaMissense 0.07
- CADD 1.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available