A17S (p.Ala17Ser) variant of CHEK2 (O96017)
A17S (p.Ala17Ser) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Bone osteosarcoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- rs137853008
- ClinGen CA117636
- cosmic curated COSV10524
- ClinVar RCV000005943
- Pathogenic
- Bone osteosarcoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.06
- MetaLR 0.43
- MetaSVM -0.34
- PolyPhen-2 0.00
- SIFT 0.68
- MutPred 0.11
- ClinVar: Pathogenic (Bone osteosarcoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations of the CHK2 gene are found in some osteosarcomas, but are rare in breast, lung, and ovarian tumors. (PMID 11746983)