V1180L (p.Val1180Leu) variant of ALK (ALK tyrosine kinase receptor)
V1180L (p.Val1180Leu) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lung cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V1180L (p.Val1180Leu) variant details
- p.Val1180Leu
- rs2148166660
- ClinGen CA346473150
- cosmic curated COSV66587
- ClinVar RCV002283356
- Likely pathogenic
- Lung cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.82
- AlphaMissense 0.42
- MetaLR 0.81
- MetaSVM 0.60
- CADD 25.50
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Lung cancer)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine… (PMID 29398453)