L3L (p.Leu3Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
L3L (p.Leu3Leu) in CYP21A2 (Steroid 21-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L3L (p.Leu3Leu) variant details
- p.Leu3Leu
- rs759181547
- gnomAD 6-32038431-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.104
- CADD 3.34
- Most common in the South Asian population (allele frequency 0.00022)
- Structural context available
- Literature evidence available