D33E (p.Asp33Glu) variant of HRAS (GTPase HRas)
D33E (p.Asp33Glu) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D33E (p.Asp33Glu) variant details
- p.Asp33Glu
- rs756934316
- ExAC rs756934316
- gnomAD rs756934316
- ClinGen CA378924972
- Uncertain significance
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.42
- AlphaMissense 0.99
- MetaLR 0.25
- MetaSVM -0.75
- CADD 22.80
- PolyPhen-2 0.84
- ClinVar: Uncertain significance (Costello syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)