Q11R (p.Gln11Arg) variant of RAD51C (O43502)
Q11R (p.Gln11Arg) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Hereditary breast ovarian. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q11R (p.Gln11Arg) variant details
- p.Gln11Arg
- rs730881937
- ClinGen CA299901
- ClinVar RCV000233682
- ClinVar RCV000587134
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Hereditary breast ovarian
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.19
- CADD 27.50
- PolyPhen-2 0.45
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)