L33I (p.Leu33Ile) variant of CYP21A2 (Steroid 21-hydroxylase)
L33I (p.Leu33Ile) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L33I (p.Leu33Ile) variant details
- p.Leu33Ile
- gnomAD rs1774905442
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 23.50
- PolyPhen-2 0.95
- SIFT 0.01
- Population evidence available
- Structural context available