G13V (p.Gly13Val) variant of HRAS (GTPase HRas)
G13V (p.Gly13Val) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Large congenital melanocytic nevus; not provided; Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- rs104894226
- Ensembl rs104894226
- ClinGen CA296055
- NCI-TCGA Cosmic COSV5423
- Pathogenic/Likely pathogenic
- Large congenital melanocytic nevus; not provided; Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.99
- MetaLR 0.65
- MetaSVM 0.56
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Large congenital melanocytic nevus; not provided; Costello syndr)
- EBI: Pathogenic (in SFM)
- UniProt: Pathogenic (in SFM)
- 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)