G13C (p.Gly13Cys) variant of HRAS (GTPase HRas)
G13C (p.Gly13Cys) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan 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.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- rs104894228
- Ensembl rs104894228
- ClinGen CA295247
- NCI-TCGA Cosmic COSV5423
- Pathogenic
- Noonan 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: Pathogenic (Noonan syndrome)
- EBI: Pathogenic (in CSTLO)
- UniProt: Pathogenic (in CSTLO)
- Structural context available
- Cited in: HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. (PMID 16329078)
- Cited in: Paternal bias in parental origin of HRAS mutations in Costello syndrome. (PMID 16835863)