L2M (p.Leu2Met) variant of NTRK1 (P04629)
L2M (p.Leu2Met) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L2M (p.Leu2Met) variant details
- p.Leu2Met
- gnomAD 1-156860938-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.27
- MetaLR 0.28
- MetaSVM -0.78
- CADD 22.90
- PolyPhen-2 0.54
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available