R11Q (p.Arg11Gln) variant of AGRN (Agrin)
R11Q (p.Arg11Gln) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- gnomAD 1-1020204-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.10
- MetaLR 0.13
- MetaSVM -1.01
- CADD 7.74
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available