L7A (p.Leu7Ala) variant of CYP21A2 (Steroid 21-hydroxylase)
L7A (p.Leu7Ala) in CYP21A2 (Steroid 21-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L7A (p.Leu7Ala) variant details
- p.Leu7Ala
- gnomAD 6-32038439-TGC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available