T2M (p.Thr2Met) variant of HRAS (GTPase HRas)
T2M (p.Thr2Met) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
T2M (p.Thr2Met) variant details
- p.Thr2Met
- rs1447218022
- ClinGen CA378926303
- cosmic curated COSV10504
- ClinVar RCV000816525
- Likely benign
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.44
- AlphaMissense 0.31
- MetaLR 0.10
- MetaSVM -0.83
- CADD 24.00
- PolyPhen-2 0.19
- ClinVar: Likely benign (Costello syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)