V65L (p.Val65Leu) variant of SLC19A3 (Thiamine transporter 2)
V65L (p.Val65Leu) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V65L (p.Val65Leu) variant details
- p.Val65Leu
- rs1695591331
- ClinGen CA350877734
- ClinVar RCV001216545
- TOPMed rs1695591331
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.20
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)