I36V (p.Ile36Val) variant of SLC19A3 (Thiamine transporter 2)
I36V (p.Ile36Val) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
I36V (p.Ile36Val) variant details
- p.Ile36Val
- rs372637185
- ClinGen CA2149408
- ClinVar RCV000730839
- ClinVar RCV001046655
- Conflicting interpretations
- not provided; Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 13.80
- PolyPhen-2 0.02
- SIFT 0.45
- ClinVar: Conflicting classifications of pathogenicity (not provided; Biotin-responsive basal ganglia disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00063)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)