L2R (p.Leu2Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
L2R (p.Leu2Arg) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L2R (p.Leu2Arg) variant details
- p.Leu2Arg
- Ensembl rs1775979294
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 21.90
- Population evidence available
- Structural context available