A34E (p.Ala34Glu) variant of ALK (ALK tyrosine kinase receptor)
A34E (p.Ala34Glu) 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 0.10 / 1. The record also includes population frequency data and structural context.
A34E (p.Ala34Glu) variant details
- p.Ala34Glu
- gnomAD rs1572503974
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.07
- MetaLR 0.17
- MetaSVM -0.93
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available