L236P (p.Leu236Pro) variant of CHEK2 (O96017)
L236P (p.Leu236Pro) 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; Familial prostate cancer; Bone osteosarcoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L236P (p.Leu236Pro) variant details
- p.Leu236Pro
- rs587782471
- ClinGen CA294400
- cosmic curated COSV10645
- ClinVar RCV000131577
- Uncertain significance
- CHEK2-related cancer predisposition; Familial prostate cancer; Bone osteosarcoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.55
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Breast and/or ovarian c)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00044)
- 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)