G60R (p.Gly60Arg) variant of HRAS (GTPase HRas)
G60R (p.Gly60Arg) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G60R (p.Gly60Arg) variant details
- p.Gly60Arg
- rs1589792804
- ClinGen CA378924680
- ClinVar RCV003082358
- Ensembl rs1589792804
- Uncertain significance
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- CADD 25.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Costello syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)