G17R (p.Gly17Arg) variant of SLC25A20 (O43772)
G17R (p.Gly17Arg) in SLC25A20 (O43772) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Carnitine acylcarnitine translocase deficiency. The record also includes structural context.
G17R (p.Gly17Arg) variant details
- p.Gly17Arg
- TOPMed rs2083928522
- Conflicting interpretations
- not specified; Carnitine acylcarnitine translocase deficiency
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not specified; Carnitine acylcarnitine translocase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available