T422P (p.Thr422Pro) variant of SLC19A3 (Thiamine transporter 2)
T422P (p.Thr422Pro) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
T422P (p.Thr422Pro) variant details
- p.Thr422Pro
- rs121917884
- ClinGen CA350875430
- ClinVar RCV003988722
- Likely pathogenic
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.67
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Biotin-responsive basal ganglia disease)
- EBI: Likely pathogenic (in BTBGD)
- UniProt: Likely pathogenic (in BTBGD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)