R143W (p.Arg143Trp) variant of CYP11B1 (P15538)
R143W (p.Arg143Trp) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R143W (p.Arg143Trp) variant details
- p.Arg143Trp
- rs140336749
- ClinGen CA344777
- cosmic curated COSV52828
- ClinVar RCV000050223
- Pathogenic/Likely pathogenic
- Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.14
- CADD 9.26
- PolyPhen-2 0.06
- SIFT 0.12
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-reme)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the South Asian population (allele frequency 0.001)
- Structural context available
- Cited in: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations. (PMID 24022297)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)