W116C (p.Trp116Cys) variant of CYP11B1 (P15538)
W116C (p.Trp116Cys) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Congenital adrenal hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
W116C (p.Trp116Cys) variant details
- p.Trp116Cys
- rs772003869
- ClinGen CA4905550
- ClinVar RCV001956178
- ClinVar RCV004770317
- Pathogenic
- not provided; Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.68
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Congenital adrenal hyperplasia)
- 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: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and… (PMID 20089618)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)