A59T (p.Ala59Thr) variant of HRAS (GTPase HRas)
A59T (p.Ala59Thr) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A59T (p.Ala59Thr) variant details
- p.Ala59Thr
- rs727503093
- Ensembl rs727503093
- ClinGen CA176353
- NCI-TCGA Cosmic COSV5424
- Likely pathogenic
- RASopathy
- 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: Likely pathogenic (RASopathy)
- 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)