E9V (p.Glu9Val) variant of RAD51C (O43502)
E9V (p.Glu9Val) 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; Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- rs2143673258
- ClinGen CA400336345
- ClinVar RCV001373157
- ClinVar RCV004699346
- Conflicting interpretations
- Hereditary cancer; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- AlphaMissense 0.15
- MetaLR 0.08
- MetaSVM -1.03
- PolyPhen-2 0.05
- SIFT 0.02
- MutPred 0.47
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer; Fanconi anemia complementation group O)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)