P48Q (p.Pro48Gln) variant of NTRK3 (NT-3 growth factor receptor)
P48Q (p.Pro48Gln) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P48Q (p.Pro48Gln) variant details
- p.Pro48Gln
- cosmic curated COSV10044
- ExAC rs772316369
- TOPMed rs772316369
- gnomAD rs772316369
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.68
- CADD 22.90
- PolyPhen-2 0.62
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available