L68R (p.Leu68Arg) variant of HSD17B3 (P37058)
L68R (p.Leu68Arg) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Testosterone 17-beta-dehydrogenase deficiency. The record also includes structural context.
L68R (p.Leu68Arg) variant details
- p.Leu68Arg
- rs2490091018
- ClinGen CA374126323
- ClinVar RCV003459909
- ClinVar RCV004701065
- Conflicting interpretations
- not specified; Testosterone 17-beta-dehydrogenase deficiency
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not specified; Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available