R4Q (p.Arg4Gln) variant of AGRN (Agrin)
R4Q (p.Arg4Gln) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- gnomAD 1-1020183-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.12
- MetaLR 0.21
- MetaSVM -0.95
- CADD 8.50
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available