L13M (p.Leu13Met) variant of AGRN (Agrin)
L13M (p.Leu13Met) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- gnomAD 1-1020209-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.17
- MetaLR 0.26
- MetaSVM -0.81
- CADD 16.00
- PolyPhen-2 0.23
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available