A2S (p.Ala2Ser) variant of AGRN (Agrin)
A2S (p.Ala2Ser) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 1-1020176-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.21
- MetaLR 0.23
- MetaSVM -0.85
- CADD 15.90
- PolyPhen-2 0.03
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available