P7T (p.Pro7Thr) variant of AGRN (Agrin)
P7T (p.Pro7Thr) in AGRN (Agrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- gnomAD 1-1020191-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.15
- MetaLR 0.30
- MetaSVM -0.85
- CADD 7.64
- PolyPhen-2 0.02
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available