L23R (p.Leu23Arg) variant of SDHB (P21912)
L23R (p.Leu23Arg) 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.
L23R (p.Leu23Arg) variant details
- p.Leu23Arg
- rs2525082838
- ClinGen CA2582341894
- ClinVar RCV003377776
- 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)