P12L (p.Pro12Leu) variant of AGRN (Agrin)
P12L (p.Pro12Leu) 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.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD 1-1020207-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.10
- MetaLR 0.16
- MetaSVM -0.95
- CADD 9.45
- PolyPhen-2 0.00
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available