D44T (p.Asp44Thr) variant of CYP21A2 (Steroid 21-hydroxylase)
D44T (p.Asp44Thr) in CYP21A2 (Steroid 21-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
D44T (p.Asp44Thr) variant details
- p.Asp44Thr
- gnomAD 6-32038548-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available