L4P (p.Leu4Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
L4P (p.Leu4Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD 6-32038433-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available