G8A (p.Gly8Ala) variant of AGRN (Agrin)
G8A (p.Gly8Ala) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G8A (p.Gly8Ala) variant details
- p.Gly8Ala
- gnomAD 1-1020195-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -0.86
- CADD 0.93
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available