P222T (p.Pro222Thr) variant of HSD3B2 (P26439)
P222T (p.Pro222Thr) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P222T (p.Pro222Thr) variant details
- p.Pro222Thr
- rs80358220
- ClinGen CA121933
- NCI-TCGA Cosmic COSV6559
- ClinVar RCV000012974
- Pathogenic
- Congenital adrenal hyperplasia; 3 beta-Hydroxysteroid dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.90
- MetaLR 0.74
- MetaSVM 0.56
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.01
- ClinVar: Pathogenic (Congenital adrenal hyperplasia; 3 beta-Hydroxysteroid dehydrogen)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid… (PMID 12050213)
- Cited in: New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight… (PMID 10599696)