I76L (p.Ile76Leu) variant of NTRK3 (NT-3 growth factor receptor)
I76L (p.Ile76Leu) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I76L (p.Ile76Leu) variant details
- p.Ile76Leu
- gnomAD rs1298685975
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.05
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.76
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available