I92V (p.Ile92Val) variant of SLC19A3 (Thiamine transporter 2)
I92V (p.Ile92Val) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I92V (p.Ile92Val) variant details
- p.Ile92Val
- ExAC rs776737721
- TOPMed rs776737721
- gnomAD rs776737721
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available