G100R (p.Gly100Arg) variant of SLC19A3 (Thiamine transporter 2)
G100R (p.Gly100Arg) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G100R (p.Gly100Arg) variant details
- p.Gly100Arg
- gnomAD rs1252280462
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.47
- CADD 24.60
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available