A34E (p.Ala34Glu) variant of NTRK3 (NT-3 growth factor receptor)
A34E (p.Ala34Glu) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A34E (p.Ala34Glu) variant details
- p.Ala34Glu
- 1000Genomes rs199520545
- ExAC rs199520545
- TOPMed rs199520545
- gnomAD rs199520545
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.44
- CADD 20.50
- PolyPhen-2 0.28
- SIFT 0.72
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available