A2D (p.Ala2Asp) variant of AGRN (Agrin)
A2D (p.Ala2Asp) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- rs776698665
- gnomAD 1-1020177-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.17
- MetaLR 0.24
- MetaSVM -0.79
- CADD 15.80
- PolyPhen-2 0.16
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available