P32H (p.Pro32His) variant of CYP21A2 (Steroid 21-hydroxylase)
P32H (p.Pro32His) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P32H (p.Pro32His) variant details
- p.Pro32His
- TOPMed rs1335443819
- gnomAD rs1335443819
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available