P32T (p.Pro32Thr) variant of ALK (ALK tyrosine kinase receptor)
P32T (p.Pro32Thr) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P32T (p.Pro32Thr) variant details
- p.Pro32Thr
- 1000Genomes rs573276657
- ExAC rs573276657
- TOPMed rs573276657
- gnomAD rs573276657
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.06
- MetaLR 0.25
- MetaSVM -0.89
- CADD 8.95
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available