R4G (p.Arg4Gly) variant of AGRN (Agrin)
R4G (p.Arg4Gly) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- rs1337682906
- gnomAD 1-1020182-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.16
- MetaLR 0.25
- MetaSVM -0.83
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available