R440H (p.Arg440His) variant of CYP17A1 (P05093)
R440H (p.Arg440His) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Deficiency of steroid 17-alpha-monooxygenase; Congenital adrenal h. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R440H (p.Arg440His) variant details
- p.Arg440His
- rs777638364
- ClinGen CA5669340
- NCI-TCGA Cosmic COSV6400
- cosmic curated COSV64004
- Pathogenic
- not provided; Deficiency of steroid 17-alpha-monooxygenase; Congenital adrenal h
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.91
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Deficiency of steroid 17-alpha-monooxygenase; Cong)
- EBI: Pathogenic (in AH5)
- UniProt: Pathogenic (in AH5)
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency. (PMID 8027220)
- Cited in: 17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation. (PMID 10720067)