R46W (p.Arg46Trp) variant of NTRK3 (NT-3 growth factor receptor)
R46W (p.Arg46Trp) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R46W (p.Arg46Trp) variant details
- p.Arg46Trp
- ExAC rs774269690
- gnomAD rs774269690
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.50
- CADD 25.60
- PolyPhen-2 0.41
- SIFT 0.02
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available