G12D (p.Gly12Asp) variant of KRAS (GTPase KRas)
G12D (p.Gly12Asp) 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 Lung cancer; Malignant tumor of urinary bladder; Cerebral arteriovenous malforma. 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.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- rs121913529
- Civic 79
- ClinGen CA122538
- cosmic curated COSV55497
- Pathogenic/Likely pathogenic
- Lung cancer; Malignant tumor of urinary bladder; Cerebral arteriovenous malforma
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.88
- MetaLR 0.58
- MetaSVM 0.27
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.14
- ClinVar: Pathogenic/Likely pathogenic (Lung cancer; Malignant tumor of urinary bladder; Cerebral arteri)
- EBI: Pathogenic (in GASC, JMML and SFM)
- UniProt: Pathogenic (in GASC, JMML and SFM)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.217
- Cited in: Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with… (PMID 16533793)
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)