L299P (p.Leu299Pro) variant of CYP11B1 (P15538)
L299P (p.Leu299Pro) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L299P (p.Leu299Pro) variant details
- p.Leu299Pro
- rs387907573
- ClinGen CA344779
- ClinVar RCV000050224
- ClinVar RCV000991870
- Pathogenic
- not provided; Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.60
- CADD 22.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Glucocorticoid-remediable aldosteronism; Deficienc)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and… (PMID 20089618)
- Cited in: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations. (PMID 24022297)