A59L (p.Ala59Leu) variant of HRAS (GTPase HRas)
A59L (p.Ala59Leu) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The record also includes published literature and structural context.
A59L (p.Ala59Leu) variant details
- p.Ala59Leu
- rs727504747
- ClinGen CA273607
- ClinVar RCV000156047
- Ensembl rs727504747
- Likely pathogenic
- RASopathy
- Missense
- ClinVar: Likely pathogenic (Costello syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: HRAS-Related Costello Syndrome. (PMID 20301680)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)