Y604C (p.Tyr604Cys) variant of POR (NADPH--cytochrome P450 reductase)
Y604C (p.Tyr604Cys) in POR (NADPH--cytochrome P450 reductase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreducta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Y604C (p.Tyr604Cys) variant details
- p.Tyr604Cys
- rs72557954
- ClinGen CA4304306
- ClinVar RCV001658880
- ClinVar RCV002469408
- Likely pathogenic
- not provided; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreducta
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.96
- MetaLR 0.82
- MetaSVM 0.88
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Congenital adrenal hyperplasia due to cytochrome P)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Cytochrome P450 Oxidoreductase Deficiency. (PMID 20301592)