A2T (p.Ala2Thr) variant of AGRN (Agrin)
A2T (p.Ala2Thr) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs1394080131
- gnomAD 1-1020176-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.24
- MetaLR 0.26
- MetaSVM -0.82
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available