L8C (p.Leu8Cys) variant of CYP21A2 (Steroid 21-hydroxylase)
L8C (p.Leu8Cys) in CYP21A2 (Steroid 21-hydroxylase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L8C (p.Leu8Cys) variant details
- p.Leu8Cys
- gnomAD 6-32038442-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available