R78K (p.Arg78Lys) variant of NTRK3 (NT-3 growth factor receptor)
R78K (p.Arg78Lys) in NTRK3 (NT-3 growth factor receptor) is a missense change. Clinical records from ClinVar 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 0.45 / 1. The record also includes population frequency data and structural context.
R78K (p.Arg78Lys) variant details
- p.Arg78Lys
- cosmic curated COSV10962
- ExAC rs776738528
- TOPMed rs776738528
- gnomAD rs776738528
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available