G57R (p.Gly57Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
G57R (p.Gly57Arg) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- ExAC rs763210859
- gnomAD rs763210859
- Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; not pro)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian… (PMID 18381579)