R454P (p.Arg454Pro) variant of CYP11B1 (P15538)
R454P (p.Arg454Pro) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Congenital adrenal hyperplasia; Glucocorticoid-remediable aldosteronism; Deficie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R454P (p.Arg454Pro) variant details
- p.Arg454Pro
- rs367634557
- ClinGen CA372391375
- ClinVar RCV005047529
- ClinVar RCV005414291
- Conflicting interpretations
- Congenital adrenal hyperplasia; Glucocorticoid-remediable aldosteronism; Deficie
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.70
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Congenital adrenal hyperplasia; Glucocorticoid-remediable aldost)
- EBI: Likely pathogenic (in AH4)
- UniProt: Likely pathogenic (in AH4)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available