P37R (p.Pro37Arg) variant of SLC19A3 (Thiamine transporter 2)
P37R (p.Pro37Arg) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P37R (p.Pro37Arg) variant details
- p.Pro37Arg
- ExAC rs759094678
- TOPMed rs759094678
- gnomAD rs759094678
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 24.90
- PolyPhen-2 0.47
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available