G60V (p.Gly60Val) variant of HRAS (GTPase HRas)
G60V (p.Gly60Val) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Large congenital melanocytic nevus; Malignant tumor of urinary bladder; Costello. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G60V (p.Gly60Val) variant details
- p.Gly60Val
- rs730880460
- ClinGen CA16606948
- NCI-TCGA Cosmic COSV5423
- ClinVar RCV000443979
- Pathogenic
- Large congenital melanocytic nevus; Malignant tumor of urinary bladder; Costello
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic (Large congenital melanocytic nevus; Malignant tumor of urinary b)
- EBI: Pathogenic
- UniProt: 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)