I4V (p.Ile4Val) variant of ALK (ALK tyrosine kinase receptor)
I4V (p.Ile4Val) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- gnomAD rs1223034189
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.0707
- REVEL 0.01
- MetaLR 0.18
- MetaSVM -0.98
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Neuroblastoma, suscepti)
- UniProt: Conflicting interpretations
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available