P42L (p.Pro42Leu) variant of SLC19A3 (Thiamine transporter 2)
P42L (p.Pro42Leu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- cosmic curated COSV51453
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 28.80
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available