A2V (p.Ala2Val) variant of AGRN (Agrin)
A2V (p.Ala2Val) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 1-1020177-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.14
- MetaLR 0.21
- MetaSVM -0.89
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available