G13D (p.Gly13Asp) variant of KRAS (GTPase KRas)
G13D (p.Gly13Asp) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome and Noonan-related syndrome; Inborn genetic diseases; Familial p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- rs112445441
- ClinGen CA122534
- NCI-TCGA Cosmic COSV5549
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; Inborn genetic diseases; Familial p
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.83
- AlphaMissense 0.96
- MetaLR 0.51
- MetaSVM 0.08
- CADD 23.80
- PolyPhen-2 0.56
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; Inborn genetic dise)
- EBI: Pathogenic (in GASC, JMML and OES)
- UniProt: Pathogenic (in GASC, JMML and OES)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.346
- Cited in: BRAF and KRAS mutations in stomach cancer. (PMID 14534542)
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)