H366Y (p.His366Tyr) variant of CYP21A2 (Steroid 21-hydroxylase)
H366Y (p.His366Tyr) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Congenital adrenal hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
H366Y (p.His366Tyr) variant details
- p.His366Tyr
- rs1330554738
- gnomAD rs1330554738
- ClinGen CA363511157
- NCI-TCGA Cosmic COSV1009
- Pathogenic
- not provided; Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Congenital adrenal hyperplasia)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Detection and assignment of CYP21 mutations using peptide mass signature genotyping. (PMID 15110320)
- Cited in: Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based… (PMID 10051010)