L34V (p.Leu34Val) variant of RAD50 (DNA repair protein RAD50)
L34V (p.Leu34Val) in RAD50 (DNA repair protein RAD50) 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.
L34V (p.Leu34Val) variant details
- p.Leu34Val
- rs2479574190
- ClinGen CA360951643
- ClinVar RCV004521618
- 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)