A18S (p.Ala18Ser) variant of ALK (ALK tyrosine kinase receptor)
A18S (p.Ala18Ser) 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 0.22 / 1. The record also includes population frequency data and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD rs1203105916
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.10
- MetaLR 0.31
- MetaSVM -0.68
- CADD 18.70
- PolyPhen-2 0.09
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available