H29Y (p.His29Tyr) variant of CYP21A2 (Steroid 21-hydroxylase)
H29Y (p.His29Tyr) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. 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.
H29Y (p.His29Tyr) variant details
- p.His29Tyr
- ExAC rs770843305
- gnomAD rs770843305
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 22.80
- PolyPhen-2 0.88
- SIFT 0.04
- Population evidence available
- Structural context available