L18M (p.Leu18Met) variant of CYP21A2 (Steroid 21-hydroxylase)
L18M (p.Leu18Met) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- gnomAD 6-32038474-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 19.00
- PolyPhen-2 0.75
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available