T2R (p.Thr2Arg) variant of HRAS (GTPase HRas)
T2R (p.Thr2Arg) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
T2R (p.Thr2Arg) variant details
- p.Thr2Arg
- rs1447218022
- ClinGen CA378926314
- ClinVar RCV001917995
- gnomAD rs1447218022
- Uncertain significance
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- AlphaMissense 0.31
- MetaLR 0.10
- MetaSVM -0.83
- PolyPhen-2 0.19
- SIFT 0.50
- MutPred 0.32
- ClinVar: Uncertain significance (Costello syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)