R14Q (p.Arg14Gln) variant of NTRK3 (NT-3 growth factor receptor)
R14Q (p.Arg14Gln) 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 0.46 / 1. The record also includes population frequency data and structural context.
R14Q (p.Arg14Gln) variant details
- p.Arg14Gln
- rs761609264
- ClinGen CA7717433
- cosmic curated COSV58115
- ClinVar RCV004239425
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.34
- CADD 24.60
- PolyPhen-2 0.95
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0011)
- Structural context available