R4P (p.Arg4Pro) variant of AGRN (Agrin)
R4P (p.Arg4Pro) 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.
R4P (p.Arg4Pro) variant details
- p.Arg4Pro
- rs539283387
- gnomAD 1-1020183-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.13
- MetaLR 0.20
- MetaSVM -0.93
- CADD 9.52
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available