G60D (p.Gly60Asp) variant of HRAS (GTPase HRas)
G60D (p.Gly60Asp) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G60D (p.Gly60Asp) variant details
- p.Gly60Asp
- rs730880460
- ClinGen CA296057
- cosmic curated COSV54239
- ClinVar RCV000157917
- Pathogenic
- not provided; Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.96
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- CADD 24.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Costello syndrome)
- EBI: Pathogenic
- UniProt: 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)