P9R (p.Pro9Arg) variant of AGRN (Agrin)
P9R (p.Pro9Arg) in AGRN (Agrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P9R (p.Pro9Arg) variant details
- p.Pro9Arg
- gnomAD 1-1020195-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 19.40
- Population evidence available
- Structural context available
- Literature evidence available