R11L (p.Arg11Leu) variant of AGRN (Agrin)
R11L (p.Arg11Leu) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- rs1281912578
- gnomAD 1-1020204-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -0.99
- CADD 8.14
- PolyPhen-2 0.00
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available