C19F (p.Cys19Phe) variant of NTRK2 (Q16620)
C19F (p.Cys19Phe) in NTRK2 (Q16620) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
C19F (p.Cys19Phe) variant details
- p.Cys19Phe
- ExAC rs200698390
- gnomAD rs200698390
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.38
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available