P43H (p.Pro43His) variant of CYP21A2 (Steroid 21-hydroxylase)
P43H (p.Pro43His) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P43H (p.Pro43His) variant details
- p.Pro43His
- gnomAD 6-32038550-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available