K117R (p.Lys117Arg) variant of HRAS (GTPase HRas)
K117R (p.Lys117Arg) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
K117R (p.Lys117Arg) variant details
- p.Lys117Arg
- rs104894227
- ClinGen CA256490
- ClinVar RCV000013439
- ClinVar RCV000353386
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.78
- MetaLR 0.88
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in CSTLO)
- UniProt: Pathogenic (in CSTLO)
- Structural context available
- Cited in: Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. (PMID 16443854)
- Cited in: Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation. (PMID 17979197)