G8C (p.Gly8Cys) variant of AGRN (Agrin)
G8C (p.Gly8Cys) 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.
G8C (p.Gly8Cys) variant details
- p.Gly8Cys
- gnomAD 1-1020194-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.15
- MetaLR 0.29
- MetaSVM -0.73
- CADD 8.35
- PolyPhen-2 0.15
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available