A59G (p.Ala59Gly) variant of HRAS (GTPase HRas)
A59G (p.Ala59Gly) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy; Paediatric disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
A59G (p.Ala59Gly) variant details
- p.Ala59Gly
- rs2133991112
- Ensembl rs2133991112
- ClinGen CA378924683
- ClinVar RCV003238902
- Pathogenic
- RASopathy; Paediatric disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- AlphaMissense 0.98
- MetaLR 0.77
- MetaSVM 0.73
- PolyPhen-2 0.20
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (RASopathy; Paediatric disorders)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available