T5S (p.Thr5Ser) variant of RAD51C (O43502)
T5S (p.Thr5Ser) 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 0.31 / 1. The record also includes published literature and structural context.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- rs1314517659
- ClinGen CA400336152
- ClinVar RCV001779184
- ClinVar RCV001859337
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.54
- MutPred 0.27
- 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)