R3Q (p.Arg3Gln) variant of CHEK2 (O96017)
R3Q (p.Arg3Gln) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R3Q (p.Arg3Gln) variant details
- p.Arg3Gln
- rs779607427
- ClinGen CA10168086
- cosmic curated COSV60428
- ClinVar RCV000483004
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.05
- AlphaMissense 0.11
- MetaLR 0.52
- MetaSVM -0.30
- CADD 14.10
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome; not prov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)