G20C (p.Gly20Cys) variant of NTRK1 (P04629)
G20C (p.Gly20Cys) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- gnomAD 1-156860992-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.42
- MetaLR 0.36
- MetaSVM -0.57
- CADD 22.50
- PolyPhen-2 0.65
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available