P56A (p.Pro56Ala) variant of SDHB (P21912)
P56A (p.Pro56Ala) in SDHB (P21912) 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.
P56A (p.Pro56Ala) variant details
- p.Pro56Ala
- rs2525059578
- ClinGen CA338227861
- ClinVar RCV002403968
- 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)