R484Q (p.Arg484Gln) variant of CYP21A2 (Steroid 21-hydroxylase)
R484Q (p.Arg484Gln) 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; Congenital adrenal hyperplasia. 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.
R484Q (p.Arg484Gln) variant details
- p.Arg484Gln
- rs200005406
- ExAC rs200005406
- gnomAD rs200005406
- ClinGen CA3732733
- Pathogenic
- not provided; Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Congenital adrenal hyperplasia)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and… (PMID 12915679)
- Cited in: Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based… (PMID 10051010)