Q34R (p.Gln34Arg) variant of CHEK2 (O96017)
Q34R (p.Gln34Arg) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
Q34R (p.Gln34Arg) variant details
- p.Gln34Arg
- rs2146152117
- ClinGen CA411091493
- ClinVar RCV001908661
- Ensembl rs2146152117
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.06
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)