L35F (p.Leu35Phe) variant of SLC19A3 (Thiamine transporter 2)
L35F (p.Leu35Phe) 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 not provided; Biotin-responsive basal ganglia disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L35F (p.Leu35Phe) variant details
- p.Leu35Phe
- rs376764604
- ClinGen CA2149409
- cosmic curated COSV51454
- ClinVar RCV002908588
- Uncertain significance
- not provided; Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.23
- CADD 20.80
- PolyPhen-2 0.17
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)