T34M (p.Thr34Met) variant of NTRK2 (Q16620)
T34M (p.Thr34Met) 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 0.22 / 1. The record also includes population frequency data and structural context.
T34M (p.Thr34Met) variant details
- p.Thr34Met
- cosmic curated COSV52853
- ExAC rs759206123
- TOPMed rs759206123
- gnomAD rs759206123
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.28
- CADD 11.50
- PolyPhen-2 0.01
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available