V238E (p.Val238Glu) variant of CYP21A2 (Steroid 21-hydroxylase)
V238E (p.Val238Glu) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; Congenital adrenal hype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
V238E (p.Val238Glu) variant details
- p.Val238Glu
- rs12530380
- 1000Genomes rs12530380
- gnomAD rs12530380
- ClinGen CA358442
- Pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; Congenital adrenal hype
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 23.60
- PolyPhen-2 0.67
- SIFT 0.03
- ClinVar: Pathogenic (Congenital adrenal hyperplasia)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in… (PMID 10408786)
- Cited in: Detection and assignment of CYP21 mutations using peptide mass signature genotyping. (PMID 15110320)