E9D (p.Glu9Asp) variant of RAD51C (O43502)
E9D (p.Glu9Asp) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- rs2143673339
- Ensembl rs2143673339
- ClinGen CA400336348
- ClinVar RCV002441530
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.12
- MetaLR 0.07
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.20
- MutPred 0.30
- ClinVar: Benign (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: 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)