P94L (p.Pro94Leu) variant of CYP11B1 (P15538)
P94L (p.Pro94Leu) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P94L (p.Pro94Leu) variant details
- p.Pro94Leu
- rs104894070
- ClinGen CA213667
- ClinVar RCV000001245
- ClinVar RCV000029646
- Pathogenic
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.52
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Glucocorticoid-remediable aldosteronism; Deficiency of steroid 1)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)
- Cited in: Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene… (PMID 16670167)