G8D (p.Gly8Asp) variant of AGRN (Agrin)
G8D (p.Gly8Asp) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G8D (p.Gly8Asp) variant details
- p.Gly8Asp
- gnomAD 1-1020195-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.13
- MetaLR 0.24
- MetaSVM -0.87
- CADD 4.69
- PolyPhen-2 0.03
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available