R332W (p.Arg332Trp) variant of CYP11B1 (P15538)
R332W (p.Arg332Trp) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.50 / 1. The record also includes population frequency data and structural context.
R332W (p.Arg332Trp) variant details
- p.Arg332Trp
- rs777626314
- ClinGen CA4905184
- cosmic curated COSV52828
- ClinVar RCV002628917
- Likely pathogenic
- Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.59
- AlphaMissense 0.47
- MetaLR 0.54
- MetaSVM 0.05
- CADD 24.70
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-reme)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available