R47L (p.Arg47Leu) variant of NTRK3 (NT-3 growth factor receptor)
R47L (p.Arg47Leu) 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 0.45 / 1. The record also includes population frequency data and structural context.
R47L (p.Arg47Leu) variant details
- p.Arg47Leu
- ESP rs373123404
- ExAC rs373123404
- TOPMed rs373123404
- gnomAD rs373123404
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.39
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available