D44Y (p.Asp44Tyr) variant of CYP21A2 (Steroid 21-hydroxylase)
D44Y (p.Asp44Tyr) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D44Y (p.Asp44Tyr) variant details
- p.Asp44Tyr
- gnomAD 6-32038552-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 15.70
- PolyPhen-2 0.79
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available