Q22K (p.Gln22Lys) variant of HRAS (GTPase HRas)
Q22K (p.Gln22Lys) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of HRAS-related disorder; not provided; Costello syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
Q22K (p.Gln22Lys) variant details
- p.Gln22Lys
- rs121917757
- ClinGen CA122553
- cosmic curated COSV54249
- ClinVar RCV000013443
- Likely pathogenic
- HRAS-related disorder; not provided; Costello syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- AlphaMissense 0.97
- MetaLR 0.48
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (HRAS-related disorder; not provided; Costello syndrome)
- EBI: Pathogenic (in CMEMS)
- UniProt: Pathogenic (in CMEMS)
- Structural context available
- Cited in: Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of… (PMID 17412879)
- Cited in: HRAS-Related Costello Syndrome. (PMID 20301680)