L12L (p.Leu12Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
L12L (p.Leu12Leu) in CYP21A2 (Steroid 21-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- gnomAD 6-32038456-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.58
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available