L382R (p.Leu382Arg) variant of CYP11B1 (P15538)
L382R (p.Leu382Arg) 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 0.63 / 1. The record also includes population frequency data and structural context.
L382R (p.Leu382Arg) variant details
- p.Leu382Arg
- rs1412048304
- ClinGen CA372392543
- ClinVar RCV000673616
- ClinVar RCV004702305
- Likely pathogenic
- Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.64
- CADD 24.20
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-reme)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available