R41Q (p.Arg41Gln) variant of HRAS (GTPase HRas)
R41Q (p.Arg41Gln) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- rs868439179
- Ensembl rs868439179
- ClinGen CA378924802
- NCI-TCGA Cosmic COSV5424
- Conflicting interpretations
- Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.99
- MetaLR 0.42
- MetaSVM -0.22
- PolyPhen-2 0.42
- SIFT 0.00
- EVE 0.44
- ClinVar: Conflicting classifications of pathogenicity (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)