L30P (p.Leu30Pro) variant of NTRK3 (NT-3 growth factor receptor)
L30P (p.Leu30Pro) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- ExAC rs754518518
- gnomAD rs754518518
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.36
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available