G36D (p.Gly36Asp) variant of CYP21A2 (Steroid 21-hydroxylase)
G36D (p.Gly36Asp) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G36D (p.Gly36Asp) variant details
- p.Gly36Asp
- gnomAD 6-32038529-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available