P12S (p.Pro12Ser) variant of AGRN (Agrin)
P12S (p.Pro12Ser) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- rs1224545239
- gnomAD 1-1020206-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.10
- MetaLR 0.25
- MetaSVM -0.94
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.54
- Population evidence available
- Structural context available
- Literature evidence available