Q22R (p.Gln22Arg) variant of KRAS (GTPase KRas)
Q22R (p.Gln22Arg) in KRAS (GTPase KRas) 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 0.77 / 1. The record also includes experimental measurements, published literature, and structural context.
Q22R (p.Gln22Arg) variant details
- p.Gln22Arg
- rs727503110
- ClinGen CA235299
- cosmic curated COSV55525
- ClinVar RCV000150893
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.98
- MetaLR 0.72
- MetaSVM 0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in NS3)
- UniProt: Pathogenic (in NS3)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.699
- Cited in: Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. (PMID 17056636)
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)