A2G (p.Ala2Gly) variant of AGRN (Agrin)
A2G (p.Ala2Gly) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD 1-1020177-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.21
- MetaLR 0.21
- MetaSVM -0.86
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available