G4C (p.Gly4Cys) variant of NTRK1 (P04629)
G4C (p.Gly4Cys) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G4C (p.Gly4Cys) variant details
- p.Gly4Cys
- gnomAD 1-156860944-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.31
- MetaLR 0.39
- MetaSVM -0.30
- CADD 24.00
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available