G87V (p.Gly87Val) variant of SLC19A3 (Thiamine transporter 2)
G87V (p.Gly87Val) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G87V (p.Gly87Val) variant details
- p.Gly87Val
- gnomAD 2-227686169-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 2.51
- Population evidence available
- Structural context available
- Literature evidence available