P12Q (p.Pro12Gln) variant of AGRN (Agrin)
P12Q (p.Pro12Gln) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P12Q (p.Pro12Gln) variant details
- p.Pro12Gln
- rs1460410228
- gnomAD 1-1020207-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.17
- MetaLR 0.20
- MetaSVM -0.90
- CADD 14.30
- PolyPhen-2 0.12
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available