P483S (p.Pro483Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
P483S (p.Pro483Ser) 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 Inborn genetic diseases; not provided; 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.
P483S (p.Pro483Ser) variant details
- p.Pro483Ser
- rs776989258
- ExAC rs776989258
- gnomAD rs776989258
- ClinGen CA3732730
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Congenital adrenal hyperp)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available
- Cited in: Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital… (PMID 15126570)
- Cited in: Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects. (PMID 27721825)