R80Q (p.Arg80Gln) variant of HSD17B3 (P37058)
R80Q (p.Arg80Gln) in HSD17B3 (P37058) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Differences in sex development; not provided; Testosterone 17-beta-dehydrogenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R80Q (p.Arg80Gln) variant details
- p.Arg80Gln
- rs119481075
- ClinGen CA117112
- ClinVar RCV000005150
- ClinVar RCV000255553
- Pathogenic
- Differences in sex development; not provided; Testosterone 17-beta-dehydrogenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.85
- MetaLR 0.90
- MetaSVM 1.03
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Differences in sex development; not provided; Testosterone 17-be)
- EBI: Pathogenic (in MPH)
- UniProt: Pathogenic (in MPH)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: The nature of the defect in familial male pseudohermaphroditism in Arabs of Gaza. (PMID 2918056)
- Cited in: Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. (PMID 8075637)