L9P (p.Leu9Pro) variant of ALK (ALK tyrosine kinase receptor)
L9P (p.Leu9Pro) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified; Neuroblastoma, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- ExAC rs764671855
- TOPMed rs764671855
- gnomAD rs764671855
- Uncertain significance
- not provided; not specified; Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.28
- MetaLR 0.37
- MetaSVM -0.72
- CADD 18.50
- PolyPhen-2 0.23
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; not specified; Neuroblastoma, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available