E47V (p.Glu47Val) variant of SLC22A5 (O76082)
E47V (p.Glu47Val) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal carnitine transport defect. The record also includes published literature and structural context.
E47V (p.Glu47Val) variant details
- p.Glu47Val
- rs2532088533
- ClinGen CA360802453
- ClinVar RCV003067729
- Uncertain significance
- Renal carnitine transport defect
- Missense
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)