L44V (p.Leu44Val) variant of XRCC2 (DNA repair protein XRCC2)
L44V (p.Leu44Val) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- rs2485882194
- ClinGen CA370199363
- ClinVar RCV003840082
- ClinVar RCV004366903
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (not provided; 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)