P48L (p.Pro48Leu) variant of NTRK2 (Q16620)
P48L (p.Pro48Leu) in NTRK2 (Q16620) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- ExAC rs756974214
- gnomAD rs756974214
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.77
- CADD 26.60
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available