K104N (p.Lys104Asn) variant of SLC19A3 (Thiamine transporter 2)
K104N (p.Lys104Asn) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K104N (p.Lys104Asn) variant details
- p.Lys104Asn
- rs1342774605
- ClinGen CA350877485
- cosmic curated COSV11321
- NCI-TCGA Cosmic COSV9929
- Uncertain significance
- Biotin-responsive basal ganglia disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.09
- ESM-1b 0.57
- AlphaMissense 0.15
- CADD 10.70
- PolyPhen-2 0.21
- SIFT 0.49
- ClinVar: Uncertain significance (Biotin-responsive basal ganglia disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)