Q107K (p.Gln107Lys) variant of SLC19A3 (Thiamine transporter 2)
Q107K (p.Gln107Lys) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
Q107K (p.Gln107Lys) variant details
- p.Gln107Lys
- ExAC rs745538722
- gnomAD rs745538722
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 26.00
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available