V70L (p.Val70Leu) variant of SLC19A3 (Thiamine transporter 2)
V70L (p.Val70Leu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V70L (p.Val70Leu) variant details
- p.Val70Leu
- cosmic curated COSV10959
- ExAC rs768590734
- gnomAD rs768590734
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.38
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available