Q22K (p.Gln22Lys) variant of KRAS (GTPase KRas)
Q22K (p.Gln22Lys) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Vascular malformation; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q22K (p.Gln22Lys) variant details
- p.Gln22Lys
- rs121913236
- ClinGen CA16602771
- NCI-TCGA Cosmic COSV5552
- cosmic curated COSV55526
- Pathogenic/Likely pathogenic
- Vascular malformation; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.81
- MetaLR 0.69
- MetaSVM 0.46
- CADD 27.70
- PolyPhen-2 0.89
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Vascular malformation; not provided; RASopathy)
- EBI: Pathogenic (in NS3)
- UniProt: Pathogenic (in NS3)
- Population evidence available
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.699
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)