D50Y (p.Asp50Tyr) variant of NTRK3 (NT-3 growth factor receptor)
D50Y (p.Asp50Tyr) 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 0.68 / 1. The record also includes population frequency data and structural context.
D50Y (p.Asp50Tyr) variant details
- p.Asp50Tyr
- rs907290552
- ClinGen CA275112632
- ClinVar RCV004496046
- TOPMed rs907290552
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.66
- CADD 25.00
- PolyPhen-2 0.71
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00052)
- Structural context available