D30E (p.Asp30Glu) variant of KRAS (GTPase KRas)
D30E (p.Asp30Glu) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Prostate cancer, hereditary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes experimental measurements, published literature, and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- rs113623140
- ClinGen CA384157278
- cosmic curated COSV55881
- ClinVar RCV002292324
- Uncertain significance
- Prostate cancer, hereditary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.48
- MetaLR 0.11
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.55
- EVE 0.10
- ClinVar: Uncertain significance (Prostate cancer, hereditary, 1)
- EBI: Benign
- UniProt: Benign
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.875
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Molecular Biomarkers in Localized Prostate Cancer: ASCO Guideline. (PMID 31829902)