L7M (p.Leu7Met) variant of CYP21A2 (Steroid 21-hydroxylase)
L7M (p.Leu7Met) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L7M (p.Leu7Met) variant details
- p.Leu7Met
- gnomAD 6-32038441-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 20.20
- PolyPhen-2 0.37
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available