T259M (p.Thr259Met) variant of HSD3B2 (P26439)
T259M (p.Thr259Met) in HSD3B2 (P26439) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Congenital adrenal hyperplasia; 3 beta-Hydroxysteroid dehydrogenas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T259M (p.Thr259Met) variant details
- p.Thr259Met
- rs80358221
- ClinGen CA121935
- cosmic curated COSV65592
- ClinVar RCV000012975
- Pathogenic/Likely pathogenic
- not provided; Congenital adrenal hyperplasia; 3 beta-Hydroxysteroid dehydrogenas
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.90
- MetaLR 0.78
- MetaSVM 0.83
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Congenital adrenal hyperplasia; 3 beta-Hydroxyster)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- Most common in the African/African-American population (allele frequency 2.4e-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)