G8V (p.Gly8Val) variant of AGRN (Agrin)
G8V (p.Gly8Val) 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.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- gnomAD 1-1020195-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.14
- MetaLR 0.24
- MetaSVM -0.87
- CADD 5.41
- PolyPhen-2 0.00
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available