V103E (p.Val103Glu) variant of SLC19A3 (Thiamine transporter 2)
V103E (p.Val103Glu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V103E (p.Val103Glu) variant details
- p.Val103Glu
- ExAC rs749088473
- TOPMed rs749088473
- gnomAD rs749088473
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 26.50
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available