Q11P (p.Gln11Pro) variant of CHEK2 (O96017)
Q11P (p.Gln11Pro) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q11P (p.Gln11Pro) variant details
- p.Gln11Pro
- rs369256181
- ClinGen CA192020
- ClinVar RCV000164888
- ClinVar RCV000558452
- Uncertain significance
- CHEK2-related cancer predisposition; Bone osteosarcoma; Familial prostate cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.22
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (CHEK2-related cancer predisposition; Bone osteosarcoma; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Genetics of Breast and Gynecologic Cancers (PDQ®): Health Professional Version. (PMID 26389210)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)