A245P (p.Ala245Pro) variant of HSD3B2 (P26439)
A245P (p.Ala245Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
A245P (p.Ala245Pro) variant details
- p.Ala245Pro
- rs1248094870
- ClinGen CA341398177
- ClinVar RCV003324316
- UniProt VAR 000008
- Pathogenic
- Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.11
- MetaLR 0.30
- MetaSVM -0.73
- PolyPhen-2 0.17
- SIFT 0.43
- EVE 0.43
- ClinVar: Pathogenic (Congenital adrenal hyperplasia)
- EBI: Pathogenic (in AH2)
- UniProt: Pathogenic (in AH2)
- 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)