E9Q (p.Glu9Gln) variant of RAD51C (O43502)
E9Q (p.Glu9Gln) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- rs1567782727
- ClinGen CA400336329
- ClinVar RCV000774890
- ClinVar RCV005056530
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.05
- AlphaMissense 0.09
- MetaLR 0.06
- MetaSVM -1.05
- CADD 21.00
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)