S31A (p.Ser31Ala) variant of ALK (ALK tyrosine kinase receptor)
S31A (p.Ser31Ala) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S31A (p.Ser31Ala) variant details
- p.Ser31Ala
- rs1026192345
- ClinGen CA16610741
- ClinVar RCV000464595
- ClinVar RCV002374741
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.04
- MetaLR 0.22
- MetaSVM -0.95
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)