L10M (p.Leu10Met) variant of AGRN (Agrin)
L10M (p.Leu10Met) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L10M (p.Leu10Met) variant details
- p.Leu10Met
- rs1226970553
- gnomAD 1-1020200-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.22
- MetaLR 0.34
- MetaSVM -0.72
- CADD 20.80
- PolyPhen-2 0.45
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available