L58* (p.Leu58Ter) variant of NTRK2 (Q16620)
L58* (p.Leu58Ter) in NTRK2 (Q16620) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
L58* (p.Leu58Ter) variant details
- p.Leu58Ter
- rs747571706
- ClinGen CA374004889
- ClinVar RCV003564760
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 0.38
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available