L13P (p.Leu13Pro) variant of AGRN (Agrin)
L13P (p.Leu13Pro) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs1244520295
- gnomAD 1-1020210-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.12
- MetaLR 0.25
- MetaSVM -0.81
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available