Q29P (p.Gln29Pro) variant of CHEK2 (O96017)
Q29P (p.Gln29Pro) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
Q29P (p.Gln29Pro) variant details
- p.Gln29Pro
- rs876660019
- ClinGen CA411091598
- ClinVar RCV001186375
- ClinVar RCV002559105
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.13
- CADD 2.04
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Familial)
- 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: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)