L15H (p.Leu15His) variant of NTRK2 (Q16620)
L15H (p.Leu15His) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L15H (p.Leu15His) variant details
- p.Leu15His
- rs756957794
- ClinGen CA5105396
- ClinVar RCV001920406
- ExAC rs756957794
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.19
- MetaLR 0.41
- MetaSVM -0.17
- PolyPhen-2 0.48
- SIFT 0.01
- MutPred 0.35
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available