S5F (p.Ser5Phe) variant of AGRN (Agrin)
S5F (p.Ser5Phe) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- gnomAD 1-1020186-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.15
- MetaLR 0.31
- MetaSVM -0.86
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available