H39L (p.His39Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
H39L (p.His39Leu) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
H39L (p.His39Leu) variant details
- p.His39Leu
- rs1030467767
- TOPMed rs1030467767
- gnomAD rs1030467767
- ClinGen CA363499053
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available