S181P (p.Ser181Pro) variant of SLC19A3 (Thiamine transporter 2)
S181P (p.Ser181Pro) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S181P (p.Ser181Pro) variant details
- p.Ser181Pro
- rs773971505
- ClinGen CA2149273
- ClinVar RCV000578309
- ExAC rs773971505
- Pathogenic
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.61
- CADD 23.40
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Pathogenic (Biotin-responsive basal ganglia disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00075)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)