A33D (p.Ala33Asp) variant of ALK (ALK tyrosine kinase receptor)
A33D (p.Ala33Asp) 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 0.24 / 1. The record also includes population frequency data and structural context.
A33D (p.Ala33Asp) variant details
- p.Ala33Asp
- TOPMed rs1037134870
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.14
- MetaLR 0.29
- MetaSVM -0.80
- CADD 22.60
- PolyPhen-2 0.22
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available