G13D (p.Gly13Asp) variant of HRAS (GTPase HRas)
G13D (p.Gly13Asp) 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 and Noonan-related syndrome; HRAS-related disorder; Thyroid canc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- rs104894226
- Ensembl rs104894226
- ClinGen CA256488
- NCI-TCGA Cosmic COSV5423
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; HRAS-related disorder; Thyroid canc
- 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 (Noonan syndrome and Noonan-related syndrome; HRAS-related disord)
- EBI: Pathogenic (in CSTLO)
- UniProt: Pathogenic (in CSTLO)
- Structural context available
- Cited in: Germline mutations in HRAS proto-oncogene cause Costello syndrome. (PMID 16170316)
- Cited in: HRAS-Related Costello Syndrome. (PMID 20301680)