A18D (p.Ala18Asp) variant of ALK (ALK tyrosine kinase receptor)
A18D (p.Ala18Asp) 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 Hereditary cancer-predisposing syndrome; 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.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- Ensembl rs2148444040
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.18
- MetaLR 0.26
- MetaSVM -0.54
- CADD 20.30
- PolyPhen-2 0.25
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available