L13L (p.Leu13Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
L13L (p.Leu13Leu) in CYP21A2 (Steroid 21-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- rs758864534
- gnomAD 6-32038459-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 5.76
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available