p.Pro15 Leu17del variant of AGRN (Agrin)
p.Pro15 Leu17del in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro15 Leu17del variant details
- rs1196847979
- gnomAD 1-1020204-GGCCGCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 18.90
- Population evidence available
- Structural context available
- Literature evidence available