Y38H (p.Tyr38His) variant of SLC19A3 (Thiamine transporter 2)
Y38H (p.Tyr38His) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Y38H (p.Tyr38His) variant details
- p.Tyr38His
- ESP rs368305641
- ExAC rs368305641
- TOPMed rs368305641
- gnomAD rs368305641
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available