R7P (p.Arg7Pro) variant of RAD51C (O43502)
R7P (p.Arg7Pro) 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; Hereditary breast ovarian cancer syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- rs892567748
- ClinGen CA400336247
- ClinVar RCV001014437
- ClinVar RCV001030582
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary breast ovarian cancer syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.12
- MetaLR 0.06
- MetaSVM -1.05
- PolyPhen-2 0.10
- SIFT 0.12
- MutPred 0.44
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary breast ovari)
- EBI: Benign
- UniProt: Benign
- 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)