Y253N (p.Tyr253Asn) variant of HSD3B2 (P26439)
Y253N (p.Tyr253Asn) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Y253N (p.Tyr253Asn) variant details
- p.Tyr253Asn
- rs1399005702
- ClinGen CA341398227
- ClinVar RCV003562287
- ClinVar RCV005013027
- Likely pathogenic
- not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.90
- MetaLR 0.87
- MetaSVM 0.96
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; 3 beta-Hydroxysteroid dehydrogenase deficiency)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)
- Cited in: Molecular basis of congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency. (PMID 8316254)