F12C (p.Phe12Cys) variant of NTRK3 (NT-3 growth factor receptor)
F12C (p.Phe12Cys) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
F12C (p.Phe12Cys) variant details
- p.Phe12Cys
- ExAC rs772820012
- TOPMed rs772820012
- gnomAD rs772820012
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.31
- CADD 24.50
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available