P12T (p.Pro12Thr) variant of AGRN (Agrin)
P12T (p.Pro12Thr) 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.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- gnomAD 1-1020206-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.07
- MetaLR 0.26
- MetaSVM -0.94
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available