A15P (p.Ala15Pro) variant of SDHB (P21912)
A15P (p.Ala15Pro) in SDHB (P21912) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- rs1553179337
- ClinGen CA645369146
- ClinVar RCV000492594
- Ensembl rs1553179337
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)