G26V (p.Gly26Val) variant of ALK (ALK tyrosine kinase receptor)
G26V (p.Gly26Val) 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 0.16 / 1. The record also includes population frequency data and structural context.
G26V (p.Gly26Val) variant details
- p.Gly26Val
- ExAC rs755942639
- gnomAD rs755942639
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.01
- MetaLR 0.21
- MetaSVM -0.94
- CADD 18.10
- PolyPhen-2 0.05
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available