R484P (p.Arg484Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
R484P (p.Arg484Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R484P (p.Arg484Pro) variant details
- p.Arg484Pro
- rs200005406
- ClinGen CA3732734
- ClinVar RCV001667859
- ClinVar RCV003238376
- Pathogenic/Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not pro)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available
- Cited in: Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore. (PMID 11598371)
- Cited in: Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation. (PMID 11600539)