G12S (p.Gly12Ser) variant of HRAS (GTPase HRas)
G12S (p.Gly12Ser) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- rs104894229
- ClinGen CA122549
- NCI-TCGA Cosmic COSV5423
- Pathogenic
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- AlphaMissense 1.00
- MetaLR 0.51
- MetaSVM 0.11
- PolyPhen-2 0.85
- SIFT 0.02
- EVE 0.59
- ClinVar: Pathogenic (Costello syndrome)
- EBI: Pathogenic (in CSTLO and CMEMS)
- UniProt: Pathogenic (in CSTLO and CMEMS)
- Structural context available
- Cited in: Myopathy with muscle spindle excess: A new congenital neuromuscular syndrome? (PMID 11150980)
- Cited in: The p53 tumor-suppressor gene and ras oncogene mutations in oral squamous-cell carcinoma. (PMID 1459726)