R46Q (p.Arg46Gln) variant of NTRK3 (NT-3 growth factor receptor)
R46Q (p.Arg46Gln) in NTRK3 (NT-3 growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R46Q (p.Arg46Gln) variant details
- p.Arg46Gln
- ExAC rs769920098
- TOPMed rs769920098
- gnomAD rs769920098
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.28
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.59
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available