A14D (p.Ala14Asp) variant of CYP21A2 (Steroid 21-hydroxylase)
A14D (p.Ala14Asp) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- gnomAD 6-32038463-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 23.40
- PolyPhen-2 0.71
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available