E63K (p.Glu63Lys) variant of HRAS (GTPase HRas)
E63K (p.Glu63Lys) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
E63K (p.Glu63Lys) variant details
- p.Glu63Lys
- rs121917756
- Ensembl rs121917756
- ClinGen CA122551
- ClinVar RCV000013442
- Pathogenic
- not provided; Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- AlphaMissense 0.97
- MetaLR 0.55
- MetaSVM -0.03
- PolyPhen-2 0.92
- SIFT 0.10
- EVE 0.51
- ClinVar: Pathogenic (not provided; Costello syndrome)
- EBI: Pathogenic (in CMEMS)
- UniProt: Pathogenic (in CMEMS)
- Structural context available
- Cited in: A new syndrome of myopathy with muscle spindle excess. (PMID 15843272)
- Cited in: Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of… (PMID 17412879)