H39D (p.His39Asp) variant of CYP21A2 (Steroid 21-hydroxylase)
H39D (p.His39Asp) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
H39D (p.His39Asp) variant details
- p.His39Asp
- TOPMed rs1167930212
- gnomAD rs1167930212
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 21.80
- PolyPhen-2 0.47
- SIFT 0.13
- Population evidence available
- Structural context available