A3R (p.Ala3Arg) variant of SDHC (Q99643)
A3R (p.Ala3Arg) in SDHC (Q99643) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A3R (p.Ala3Arg) variant details
- p.Ala3Arg
- rs786205146
- ClinGen CA016383
- ClinVar RCV000170331
- ClinVar RCV000492519
- 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)