L19P (p.Leu19Pro) variant of RAD51C (O43502)
L19P (p.Leu19Pro) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.55 / 1. The record also includes published literature and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- rs1598448973
- ClinGen CA400336724
- ClinVar RCV000811973
- ClinVar RCV001024433
- Uncertain significance
- Fanconi anemia complementation group O; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.78
- MetaLR 0.36
- MetaSVM -0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Uncertain significance (Fanconi anemia complementation group O; Hereditary cancer-predis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)