L562P (p.Leu562Pro) variant of POR (NADPH--cytochrome P450 reductase)
L562P (p.Leu562Pro) 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 Congenital adrenal hyperplasia; Antley-Bixler syndrome with genital anomalies an. The record also includes population frequency data and structural context.
L562P (p.Leu562Pro) variant details
- p.Leu562Pro
- gnomAD rs1312625886
- Likely pathogenic
- Congenital adrenal hyperplasia; Antley-Bixler syndrome with genital anomalies an
- Missense
- ClinVar: Likely pathogenic (Congenital adrenal hyperplasia; Antley-Bixler syndrome with geni)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available