P222Q (p.Pro222Gln) variant of HSD3B2 (P26439)
P222Q (p.Pro222Gln) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital adrenal hyperplasia; 3 beta-Hydroxysteroid dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P222Q (p.Pro222Gln) variant details
- p.Pro222Gln
- rs765547422
- ClinGen CA1036015
- ClinVar RCV002302451
- ClinVar RCV003098016
- Pathogenic
- Congenital adrenal hyperplasia; 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.84
- MetaLR 0.72
- MetaSVM 0.53
- CADD 24.30
- PolyPhen-2 0.72
- SIFT 0.03
- ClinVar: Pathogenic (Congenital adrenal hyperplasia; 3 beta-Hydroxysteroid dehydrogen)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)
- Cited in: Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. (PMID 10651755)