L56V (p.Leu56Val) variant of NTRK3 (NT-3 growth factor receptor)
L56V (p.Leu56Val) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L56V (p.Leu56Val) variant details
- p.Leu56Val
- TOPMed rs201878520
- gnomAD rs201878520
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.53
- CADD 23.00
- PolyPhen-2 0.61
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available