P69L (p.Pro69Leu) variant of SLC19A3 (Thiamine transporter 2)
P69L (p.Pro69Leu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- ExAC rs774152328
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available