L6L (p.Leu6Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
L6L (p.Leu6Leu) in CYP21A2 (Steroid 21-hydroxylase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- rs1000516457
- gnomAD 6-32038438-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 8.14
- Most common in the Non-Finnish European population (allele frequency 0.00025)
- Structural context available
- Literature evidence available