L15P (p.Leu15Pro) variant of NTRK2 (Q16620)
L15P (p.Leu15Pro) 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 0.51 / 1. The record also includes population frequency data and structural context.
L15P (p.Leu15Pro) variant details
- p.Leu15Pro
- ExAC rs756957794
- gnomAD rs756957794
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.53
- AlphaMissense 0.19
- MetaLR 0.41
- MetaSVM -0.17
- CADD 25.20
- PolyPhen-2 0.48
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available