L16P (p.Leu16Pro) variant of AGRN (Agrin)
L16P (p.Leu16Pro) in AGRN (Agrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- gnomAD 1-1020215-CCG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available