R454H (p.Arg454His) variant of CYP11B1 (P15538)
R454H (p.Arg454His) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Congenital adrenal hyperplasia; Deficiency of steroid 11-beta-mono. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R454H (p.Arg454His) variant details
- p.Arg454His
- rs367634557
- ClinGen CA4905010
- cosmic curated COSV99455
- ClinVar RCV000672406
- Pathogenic/Likely pathogenic
- not provided; Congenital adrenal hyperplasia; Deficiency of steroid 11-beta-mono
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.62
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Congenital adrenal hyperplasia; Deficiency of ster)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the Non-Finnish European population (allele frequency 2.7e-05)
- Structural context available