D13N (p.Asp13Asn) variant of RAD51C (O43502)
D13N (p.Asp13Asn) 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 0.34 / 1. The record also includes published literature and structural context.
D13N (p.Asp13Asn) variant details
- p.Asp13Asn
- rs1060502603
- ClinGen CA400336507
- NCI-TCGA Cosmic COSV5362
- cosmic curated COSV53627
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- AlphaMissense 0.15
- MetaLR 0.15
- MetaSVM -0.87
- PolyPhen-2 0.41
- SIFT 0.02
- MutPred 0.50
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- 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)