C170R (p.Cys170Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
C170R (p.Cys170Arg) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital adrenal hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
C170R (p.Cys170Arg) variant details
- p.Cys170Arg
- UniProt VAR 075372
- Likely pathogenic
- Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of… (PMID 16984992)
- Cited in: Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based… (PMID 10051010)