G2V (p.Gly2Val) variant of ALK (ALK tyrosine kinase receptor)
G2V (p.Gly2Val) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G2V (p.Gly2Val) variant details
- p.Gly2Val
- TOPMed rs1459946897
- gnomAD rs1459946897
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.11
- MetaLR 0.44
- MetaSVM -0.60
- CADD 19.20
- PolyPhen-2 0.19
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available