A2P (p.Ala2Pro) variant of AGRN (Agrin)
A2P (p.Ala2Pro) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- rs1394080131
- gnomAD 1-1020176-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.26
- MetaLR 0.22
- MetaSVM -0.78
- CADD 19.60
- PolyPhen-2 0.21
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available