R374P (p.Arg374Pro) variant of CYP11B1 (P15538)
R374P (p.Arg374Pro) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remedi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
R374P (p.Arg374Pro) variant details
- p.Arg374Pro
- rs104894062
- ClinGen CA372393346
- ClinVar RCV002635044
- ClinVar RCV005042923
- Uncertain significance
- not provided; Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remedi
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.94
- CADD 34.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Deficiency of steroid 11-beta-monooxygenase; Gluco)
- EBI: Likely pathogenic (in AH4)
- UniProt: Likely pathogenic (in AH4)
- Population evidence available
- Structural context available