A59S (p.Ala59Ser) variant of HRAS (GTPase HRas)
A59S (p.Ala59Ser) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome and Noonan-related syndrome; Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A59S (p.Ala59Ser) variant details
- p.Ala59Ser
- rs727503093
- Ensembl rs727503093
- ClinGen CA378924686
- ClinVar RCV001813657
- Uncertain significance
- Noonan syndrome and Noonan-related syndrome; Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (Noonan syndrome and Noonan-related syndrome; Costello syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: HRAS-Related Costello Syndrome. (PMID 20301680)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)