D50E (p.Asp50Glu) variant of NTRK3 (NT-3 growth factor receptor)
D50E (p.Asp50Glu) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D50E (p.Asp50Glu) variant details
- p.Asp50Glu
- ExAC rs779572834
- gnomAD rs779572834
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.26
- CADD 16.40
- PolyPhen-2 0.06
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available