P42L (p.Pro42Leu) variant of CYP11B1 (P15538)
P42L (p.Pro42Leu) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs193922538
- ClinGen CA213661
- ClinVar RCV000029643
- ClinVar RCV001852593
- Likely pathogenic
- Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.59
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- 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 0.00013)
- Structural context available
- Cited in: Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency. (PMID 26053152)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)