R47Q (p.Arg47Gln) variant of NTRK3 (NT-3 growth factor receptor)
R47Q (p.Arg47Gln) 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 0.38 / 1. The record also includes population frequency data and structural context.
R47Q (p.Arg47Gln) variant details
- p.Arg47Gln
- rs373123404
- ClinGen CA7717410
- cosmic curated COSV10962
- ClinVar RCV004496045
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.27
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available