G3S (p.Gly3Ser) variant of AGRN (Agrin)
G3S (p.Gly3Ser) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- rs1329485459
- gnomAD 1-1020179-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.10
- MetaLR 0.19
- MetaSVM -0.96
- CADD 10.60
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available