P42S (p.Pro42Ser) variant of CYP11B1 (P15538)
P42S (p.Pro42Ser) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- rs104894069
- ClinGen CA213660
- ClinVar RCV000001238
- ClinVar RCV000029642
- Pathogenic/Likely pathogenic
- Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11-beta-monooxyge
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.77
- AlphaMissense 0.52
- MetaLR 0.90
- MetaSVM 0.96
- CADD 23.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Glucocorticoid-remediable aldosteronism; Deficiency of steroid 1)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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: Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency. (PMID 26053152)