G8S (p.Gly8Ser) variant of AGRN (Agrin)
G8S (p.Gly8Ser) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- gnomAD 1-1020194-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.12
- MetaLR 0.27
- MetaSVM -0.86
- CADD 1.88
- PolyPhen-2 0.01
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available