P37Q (p.Pro37Gln) variant of ALK (ALK tyrosine kinase receptor)
P37Q (p.Pro37Gln) 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 0.17 / 1. The record also includes population frequency data and structural context.
P37Q (p.Pro37Gln) variant details
- p.Pro37Gln
- gnomAD rs1437432300
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.04
- MetaLR 0.23
- MetaSVM -0.92
- CADD 14.90
- PolyPhen-2 0.11
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available