I25N (p.Ile25Asn) variant of RAD51D (O75771)
I25N (p.Ile25Asn) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
I25N (p.Ile25Asn) variant details
- p.Ile25Asn
- rs2091797279
- ClinGen CA399092285
- ClinVar RCV001188812
- gnomAD rs2091797279
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)