Q22E (p.Gln22Glu) variant of KRAS (GTPase KRas)
Q22E (p.Gln22Glu) 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 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q22E (p.Gln22Glu) variant details
- p.Gln22Glu
- rs121913236
- ClinGen CA384157372
- ClinVar RCV000654936
- UniProt VAR 064850
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.82
- MetaLR 0.71
- MetaSVM 0.66
- CADD 26.10
- PolyPhen-2 0.23
- SIFT 0.06
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in CFC2)
- UniProt: Pathogenic (in CFC2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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: Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. (PMID 20949621)