T20I (p.Thr20Ile) variant of HRAS (GTPase HRas)
T20I (p.Thr20Ile) 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 0.67 / 1. The record also includes published literature and structural context.
T20I (p.Thr20Ile) variant details
- p.Thr20Ile
- rs1851317850
- ClinGen CA378925822
- cosmic curated COSV54248
- ClinVar RCV003514667
- Uncertain significance
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.94
- MetaLR 0.62
- MetaSVM 0.41
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- 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)