L56I (p.Leu56Ile) variant of NTRK3 (NT-3 growth factor receptor)
L56I (p.Leu56Ile) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L56I (p.Leu56Ile) variant details
- p.Leu56Ile
- TOPMed rs201878520
- gnomAD rs201878520
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.57
- CADD 22.10
- PolyPhen-2 0.90
- SIFT 0.21
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available