D50N (p.Asp50Asn) variant of NTRK3 (NT-3 growth factor receptor)
D50N (p.Asp50Asn) in NTRK3 (NT-3 growth factor receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D50N (p.Asp50Asn) variant details
- p.Asp50Asn
- TOPMed rs907290552
- gnomAD rs907290552
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.31
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available