G114E (p.Gly114Glu) variant of RAD51C (O43502)
G114E (p.Gly114Glu) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Breast-ovarian cancer, familial, susceptibility to, 3; Hereditary cancer-predisp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
G114E (p.Gly114Glu) variant details
- p.Gly114Glu
- rs1555593767
- ClinGen CA400341427
- ClinVar RCV004522579
- Likely pathogenic
- Breast-ovarian cancer, familial, susceptibility to, 3; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 0.92
- MetaLR 0.75
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (Breast-ovarian cancer, familial, susceptibility to, 3; Hereditar)
- EBI: Likely pathogenic (in dbSNP:rs1555593767)
- UniProt: Likely pathogenic (in dbSNP:rs1555593767)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)