A34P (p.Ala34Pro) variant of ALK (ALK tyrosine kinase receptor)
A34P (p.Ala34Pro) in ALK (ALK tyrosine kinase receptor) is a missense change. Clinical records from ClinVar 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 0.09 / 1. The record also includes population frequency data and structural context.
A34P (p.Ala34Pro) variant details
- p.Ala34Pro
- gnomAD rs1667968251
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0873
- REVEL 0.05
- MetaLR 0.15
- MetaSVM -1.00
- CADD 0.93
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available