I173N (p.Ile173Asn) variant of CYP21A2 (Steroid 21-hydroxylase)
I173N (p.Ile173Asn) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.65 / 1. The record also includes population frequency data and published literature.
I173N (p.Ile173Asn) variant details
- p.Ile173Asn
- rs6475
- 1000Genomes rs6475
- ExAC rs6475
- gnomAD rs6475
- Pathogenic
- Inborn genetic diseases; not provided; Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Congenital adrenal hyperp)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Cited in: Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based… (PMID 10051010)
- Cited in: Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative… (PMID 10364682)