S5P (p.Ser5Pro) variant of AGRN (Agrin)
S5P (p.Ser5Pro) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- gnomAD 1-1020185-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.11
- MetaLR 0.26
- MetaSVM -0.94
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available