I78T (p.Ile78Thr) variant of CYP21A2 (Steroid 21-hydroxylase)
I78T (p.Ile78Thr) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital adrenal hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
I78T (p.Ile78Thr) variant details
- p.Ile78Thr
- rs1333278223
- ClinGen CA363499796
- ClinVar RCV003901982
- ClinVar RCV004690495
- Pathogenic
- Congenital adrenal hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Congenital adrenal hyperplasia)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Cited in: Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase… (PMID 20080860)
- Cited in: Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based… (PMID 10051010)