H39P (p.His39Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
H39P (p.His39Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
H39P (p.His39Pro) variant details
- p.His39Pro
- TOPMed rs1030467767
- gnomAD rs1030467767
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available