V72A (p.Val72Ala) variant of SLC19A3 (Thiamine transporter 2)
V72A (p.Val72Ala) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V72A (p.Val72Ala) variant details
- p.Val72Ala
- ExAC rs748889067
- TOPMed rs748889067
- gnomAD rs748889067
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.64
- ESM-1b 0.90
- AlphaMissense 0.36
- CADD 24.20
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available