L28L (p.Leu28Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
L28L (p.Leu28Leu) in CYP21A2 (Steroid 21-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L28L (p.Leu28Leu) variant details
- p.Leu28Leu
- gnomAD 6-32038506-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 3.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available