G5W (p.Gly5Trp) variant of ALK (ALK tyrosine kinase receptor)
G5W (p.Gly5Trp) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G5W (p.Gly5Trp) variant details
- p.Gly5Trp
- TOPMed rs1272214012
- gnomAD rs1272214012
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.06
- MetaLR 0.23
- MetaSVM -0.94
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available