V65E (p.Val65Glu) variant of SLC19A3 (Thiamine transporter 2)
V65E (p.Val65Glu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V65E (p.Val65Glu) variant details
- p.Val65Glu
- TOPMed rs1695591205
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.71
- CADD 8.76
- PolyPhen-2 0.40
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available