S5Y (p.Ser5Tyr) variant of AGRN (Agrin)
S5Y (p.Ser5Tyr) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S5Y (p.Ser5Tyr) variant details
- p.Ser5Tyr
- gnomAD 1-1020186-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.10
- MetaLR 0.32
- MetaSVM -0.84
- CADD 10.80
- PolyPhen-2 0.06
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available