L7L (p.Leu7Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
L7L (p.Leu7Leu) in CYP21A2 (Steroid 21-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L7L (p.Leu7Leu) variant details
- p.Leu7Leu
- gnomAD 6-32038441-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 9.68
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available