S21P (p.Ser21Pro) variant of ALK (ALK tyrosine kinase receptor)
S21P (p.Ser21Pro) 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 Neuroblastoma, susceptibility to, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S21P (p.Ser21Pro) variant details
- p.Ser21Pro
- rs1275224090
- ClinGen CA346590766
- ClinVar RCV001067174
- gnomAD rs1275224090
- Uncertain significance
- Neuroblastoma, susceptibility to, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.03
- MetaLR 0.21
- MetaSVM -0.95
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Neuroblastoma, susceptibility to, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)