D64G (p.Asp64Gly) variant of NTRK2 (Q16620)
D64G (p.Asp64Gly) in NTRK2 (Q16620) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D64G (p.Asp64Gly) variant details
- p.Asp64Gly
- ExAC rs781249905
- TOPMed rs781249905
- gnomAD rs781249905
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.27
- CADD 24.70
- PolyPhen-2 0.46
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available