K4Q (p.Lys4Gln) variant of RAD51C (O43502)
K4Q (p.Lys4Gln) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
K4Q (p.Lys4Gln) variant details
- p.Lys4Gln
- rs2047798556
- ClinGen CA400336117
- ClinVar RCV002455594
- ClinVar RCV003101864
- Conflicting interpretations
- Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.09
- MutPred 0.26
- ClinVar: Conflicting classifications of pathogenicity (Fanconi anemia complementation group O; Hereditary cancer-predis)
- EBI: Likely benign
- UniProt: Likely 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)