R448P (p.Arg448Pro) variant of CYP11B1 (P15538)
R448P (p.Arg448Pro) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
R448P (p.Arg448Pro) variant details
- p.Arg448Pro
- rs28934586
- ClinGen CA372391454
- ClinVar RCV001332501
- ClinVar RCV003989685
- Pathogenic
- Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.40
- MetaLR 0.71
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-reme)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Structural context available