P48L (p.Pro48Leu) variant of NTRK3 (NT-3 growth factor receptor)
P48L (p.Pro48Leu) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- ExAC rs772316369
- TOPMed rs772316369
- gnomAD rs772316369
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.66
- CADD 24.00
- PolyPhen-2 0.29
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available