L30L (p.Leu30Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
L30L (p.Leu30Leu) 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.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- gnomAD 6-32038512-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 7.79
- Population evidence available
- Structural context available
- Literature evidence available