C268Y (p.Cys268Tyr) variant of HSD17B3 (P37058)
C268Y (p.Cys268Tyr) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
C268Y (p.Cys268Tyr) variant details
- p.Cys268Tyr
- rs119481080
- ClinGen CA117117
- ClinVar RCV000005157
- UniProt VAR 016073
- Pathogenic
- Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- AlphaMissense 0.51
- MetaLR 0.52
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.13
- EVE 0.28
- ClinVar: Pathogenic (Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic (in MPH)
- UniProt: Pathogenic (in MPH)
- Structural context available
- Cited in: Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID 11158067)
- Cited in: Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant… (PMID 26545797)