Q176P (p.Gln176Pro) variant of HSD17B3 (P37058)
Q176P (p.Gln176Pro) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Testosterone 17-beta-dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q176P (p.Gln176Pro) variant details
- p.Gln176Pro
- rs767259718
- ClinGen CA5140351
- ClinVar RCV003557456
- ClinVar RCV004701734
- Pathogenic
- not provided; Testosterone 17-beta-dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.62
- MetaLR 0.65
- MetaSVM -0.13
- CADD 8.93
- PolyPhen-2 0.23
- SIFT 0.14
- ClinVar: Pathogenic (not provided; Testosterone 17-beta-dehydrogenase deficiency)
- EBI: Pathogenic (in MPH)
- UniProt: Pathogenic (in MPH)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID 8550739)
- Cited in: Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. (PMID 11158067)