G12R (p.Gly12Arg) variant of HRAS (GTPase HRas)
G12R (p.Gly12Arg) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs104894229
- ClinGen CA16602439
- NCI-TCGA Cosmic COSV5423
- cosmic curated COSV54236
- Likely pathogenic
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- AlphaMissense 1.00
- MetaLR 0.51
- MetaSVM 0.11
- PolyPhen-2 0.85
- SIFT 0.02
- EVE 0.59
- ClinVar: Likely pathogenic (Costello syndrome)
- EBI: Pathogenic (in CSTLO, bladder carcinoma and CMEMS)
- UniProt: Pathogenic (in CSTLO, bladder carcinoma and CMEMS)
- 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)