G13S (p.Gly13Ser) variant of HRAS (GTPase HRas)
G13S (p.Gly13Ser) 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 0.56 / 1. The record also includes published literature and structural context.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- rs104894228
- Ensembl rs104894228
- ClinGen CA16602769
- NCI-TCGA Cosmic COSV5423
- Likely pathogenic
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- AlphaMissense 0.98
- MetaLR 0.48
- MetaSVM 0.43
- PolyPhen-2 0.79
- SIFT 0.00
- EVE 0.35
- ClinVar: Likely pathogenic (Costello syndrome)
- 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)