G13R (p.Gly13Arg) variant of HRAS (GTPase HRas)
G13R (p.Gly13Arg) 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 Noonan syndrome and Noonan-related syndrome; Non-immune hydrops fetalis; Epiderm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs104894228
- Ensembl rs104894228
- ClinGen CA129950
- NCI-TCGA Cosmic COSV5423
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; Non-immune hydrops fetalis; Epiderm
- 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/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; Non-immune hydrops)
- EBI: Pathogenic (in SFM)
- UniProt: Pathogenic (in SFM)
- Structural context available
- Cited in: Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets. (PMID 12835555)
- Cited in: Keratinocytic epidermal nevi are associated with mosaic RAS mutations. (PMID 22499344)