Q11H (p.Gln11His) variant of RAD51C (O43502)
Q11H (p.Gln11His) 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; Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
Q11H (p.Gln11His) variant details
- p.Gln11His
- rs748248444
- ClinGen CA292046868
- ClinVar RCV003618508
- ClinVar RCV004673943
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.24
- MetaLR 0.14
- MetaSVM -0.99
- PolyPhen-2 0.18
- SIFT 0.07
- MutPred 0.37
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Benign
- UniProt: Benign
- 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)