M106V (p.Met106Val) variant of SLC19A3 (Thiamine transporter 2)
M106V (p.Met106Val) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
M106V (p.Met106Val) variant details
- p.Met106Val
- rs769548199
- ClinGen CA2149334
- cosmic curated COSV51453
- ClinVar RCV001980501
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 23.50
- PolyPhen-2 0.68
- SIFT 0.06
- 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 7e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)