P454S (p.Pro454Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
P454S (p.Pro454Ser) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; Congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P454S (p.Pro454Ser) variant details
- p.Pro454Ser
- rs6445
- ClinGen CA341186
- cosmic curated COSV64482
- ClinVar RCV000012942
- Pathogenic
- not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; Congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative… (PMID 10364682)
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)