R4L (p.Arg4Leu) variant of AGRN (Agrin)
R4L (p.Arg4Leu) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- rs539283387
- gnomAD 1-1020183-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.15
- MetaLR 0.14
- MetaSVM -0.97
- CADD 8.70
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available