L3I (p.Leu3Ile) variant of CYP21A2 (Steroid 21-hydroxylase)
L3I (p.Leu3Ile) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L3I (p.Leu3Ile) variant details
- p.Leu3Ile
- TOPMed rs1393057973
- gnomAD rs1393057973
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 8.54
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available