V282L (p.Val282Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
V282L (p.Val282Leu) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available record places it 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.
V282L (p.Val282Leu) variant details
- p.Val282Leu
- rs6471
- 1000Genomes rs6471
- ExAC rs6471
- gnomAD rs6471
- not provided
- Inborn genetic diseases; not provided; Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 23.50
- PolyPhen-2 0.68
- SIFT 0.25
- ClinVar: not provided (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the 1KG:MXL population (allele frequency 0.081)
- Structural context available
- Cited in: Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis. Mutations… (PMID 10094562)
- Cited in: Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative… (PMID 10364682)