P37L (p.Pro37Leu) variant of SLC19A3 (Thiamine transporter 2)
P37L (p.Pro37Leu) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- rs759094678
- cosmic curated COSV10509
- ClinGen CA350877920
- ClinVar RCV003115479
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 23.80
- PolyPhen-2 0.37
- SIFT 0.04
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)