G425S (p.Gly425Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
G425S (p.Gly425Ser) 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 not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G425S (p.Gly425Ser) variant details
- p.Gly425Ser
- rs72552758
- ExAC rs72552758
- TOPMed rs72552758
- gnomAD rs72552758
- Pathogenic/Likely pathogenic
- not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperp)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency. (PMID 10443693)
- Cited in: Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation. (PMID 11600539)