R89C (p.Arg89Cys) variant of NTRK3 (NT-3 growth factor receptor)
R89C (p.Arg89Cys) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R89C (p.Arg89Cys) variant details
- p.Arg89Cys
- cosmic curated COSV58109
- 1000Genomes rs770278704
- ExAC rs770278704
- gnomAD rs770278704
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.60
- CADD 27.60
- PolyPhen-2 0.34
- SIFT 0.04
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available