L19M (p.Leu19Met) variant of HRAS (GTPase HRas)
L19M (p.Leu19Met) 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 0.57 / 1. The record also includes published literature and structural context.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- rs2133994674
- ClinGen CA378925856
- ClinVar RCV003111807
- Uncertain significance
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.57
- MetaLR 0.58
- MetaSVM 0.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.47
- 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)