L97P (p.Leu97Pro) variant of SLC19A3 (Thiamine transporter 2)
L97P (p.Leu97Pro) 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.
L97P (p.Leu97Pro) variant details
- p.Leu97Pro
- gnomAD rs1483082721
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available