R46P (p.Arg46Pro) variant of NTRK3 (NT-3 growth factor receptor)
R46P (p.Arg46Pro) in NTRK3 (NT-3 growth factor receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R46P (p.Arg46Pro) variant details
- p.Arg46Pro
- rs769920098
- ClinGen CA7717414
- ClinVar RCV004148012
- ExAC rs769920098
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.51
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)
- Structural context available