L19P (p.Leu19Pro) variant of SLC19A3 (Thiamine transporter 2)
L19P (p.Leu19Pro) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- ESP rs142553867
- ExAC rs142553867
- TOPMed rs142553867
- gnomAD rs142553867
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available