V6F (p.Val6Phe) variant of RAD51D (O75771)
V6F (p.Val6Phe) 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.
V6F (p.Val6Phe) variant details
- p.Val6Phe
- rs368198698
- ClinGen CA399092561
- ClinVar RCV000773696
- Ensembl rs368198698
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (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)