V109I (p.Val109Ile) variant of SLC19A3 (Thiamine transporter 2)
V109I (p.Val109Ile) 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 Inborn genetic diseases; not provided; Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V109I (p.Val109Ile) variant details
- p.Val109Ile
- rs780569649
- ClinGen CA2149332
- ClinVar RCV000273994
- ClinVar RCV000813702
- Conflicting interpretations
- Inborn genetic diseases; not provided; Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 14.40
- PolyPhen-2 0.23
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Biotin-responsive basal g)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)