G87D (p.Gly87Asp) variant of SLC19A3 (Thiamine transporter 2)
G87D (p.Gly87Asp) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G87D (p.Gly87Asp) variant details
- p.Gly87Asp
- ESP rs370463398
- ExAC rs370463398
- gnomAD rs370463398
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 1.35
- Most common in the Non-Finnish European population (allele frequency 6.5e-06)
- Structural context available