L41M (p.Leu41Met) variant of CYP21A2 (Steroid 21-hydroxylase)
L41M (p.Leu41Met) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L41M (p.Leu41Met) variant details
- p.Leu41Met
- gnomAD 6-32038543-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 18.60
- PolyPhen-2 0.47
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available