I237N (p.Ile237Asn) variant of CYP21A2 (Steroid 21-hydroxylase)
I237N (p.Ile237Asn) 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; 21-Hydroxylase-Deficient Congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
I237N (p.Ile237Asn) variant details
- p.Ile237Asn
- rs1554299737
- 1000Genomes rs1554299737
- gnomAD rs1554299737
- ClinGen CA358444
- Pathogenic
- not provided; Congenital adrenal hyperplasia; 21-Hydroxylase-Deficient Congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 23.00
- PolyPhen-2 0.82
- SIFT 0.00
- 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: Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia. (PMID 15623806)
- Cited in: Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene… (PMID 2845408)