E9K (p.Glu9Lys) variant of RAD51C (O43502)
E9K (p.Glu9Lys) 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.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- rs1567782727
- ClinGen CA400336327
- ClinVar RCV002426232
- Ensembl rs1567782727
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.09
- MetaLR 0.06
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.66
- MutPred 0.40
- 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)