D13E (p.Asp13Glu) variant of RAD51C (O43502)
D13E (p.Asp13Glu) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
D13E (p.Asp13Glu) variant details
- p.Asp13Glu
- rs2143674219
- Ensembl rs2143674219
- ClinGen CA400336531
- ClinVar RCV002375643
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.13
- MetaLR 0.04
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.36
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)