A138R (p.Ala138Arg) variant of SMARCE1 (Q969G3)
A138R (p.Ala138Arg) in SMARCE1 (Q969G3) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
A138R (p.Ala138Arg) variant details
- p.Ala138Arg
- rs2508603762
- ClinGen CA2580093781
- ClinVar RCV002323481
- 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)