L28M (p.Leu28Met) variant of NTRK1 (P04629)
L28M (p.Leu28Met) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L28M (p.Leu28Met) variant details
- p.Leu28Met
- gnomAD 1-156861016-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.33
- MetaLR 0.48
- MetaSVM -0.11
- CADD 22.90
- PolyPhen-2 0.94
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available