L9L (p.Leu9Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
L9L (p.Leu9Leu) in CYP21A2 (Steroid 21-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L9L (p.Leu9Leu) variant details
- p.Leu9Leu
- rs1305810358
- gnomAD 6-32038447-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.302
- CADD 11.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available