D33N (p.Asp33Asn) variant of HRAS (GTPase HRas)
D33N (p.Asp33Asn) 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 0.52 / 1. The record also includes published literature and structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- rs1851315835
- ClinGen CA378924982
- NCI-TCGA Cosmic COSV5423
- NCI-TCGA Cosmic COSV5424
- Uncertain significance
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- AlphaMissense 0.99
- MetaLR 0.51
- MetaSVM 0.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.37
- 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)