H39Y (p.His39Tyr) variant of CYP21A2 (Steroid 21-hydroxylase)
H39Y (p.His39Tyr) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
H39Y (p.His39Tyr) variant details
- p.His39Tyr
- TOPMed rs1775994695
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available