P23A (p.Pro23Ala) variant of SDHA (P31040)
P23A (p.Pro23Ala) in SDHA (P31040) 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.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- rs2477279891
- ClinGen CA359008068
- ClinVar RCV002369472
- 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)