L14M (p.Leu14Met) variant of AGRN (Agrin)
L14M (p.Leu14Met) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- gnomAD 1-1020212-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.22
- MetaLR 0.52
- MetaSVM -0.52
- CADD 22.90
- PolyPhen-2 0.95
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available