R374W (p.Arg374Trp) variant of CYP11B1 (P15538)
R374W (p.Arg374Trp) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.73 / 1. The record also includes population frequency data and structural context.
R374W (p.Arg374Trp) variant details
- p.Arg374Trp
- rs61752786
- ClinGen CA213654
- cosmic curated COSV52828
- ClinVar RCV000029638
- Conflicting interpretations
- Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.89
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-reme)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Population evidence available
- Structural context available