I55V (p.Ile55Val) variant of SLC19A3 (Thiamine transporter 2)
I55V (p.Ile55Val) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I55V (p.Ile55Val) variant details
- p.Ile55Val
- 1000Genomes rs183021027
- ExAC rs183021027
- TOPMed rs183021027
- gnomAD rs183021027
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 7.49
- PolyPhen-2 0.07
- SIFT 0.22
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available