R11W (p.Arg11Trp) variant of AGRN (Agrin)
R11W (p.Arg11Trp) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R11W (p.Arg11Trp) variant details
- p.Arg11Trp
- rs1481835054
- gnomAD 1-1020203-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.13
- MetaLR 0.23
- MetaSVM -0.91
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available