E34D (p.Glu34Asp) variant of MET (P08581)
E34D (p.Glu34Asp) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal cell carcinoma; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- rs1296330997
- TOPMed rs1296330997
- gnomAD rs1296330997
- ClinGen CA368968343
- Uncertain significance
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.09
- MetaLR 0.30
- MetaSVM -0.57
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 0.18
- ClinVar: Uncertain significance (Renal cell carcinoma; Hereditary cancer-predisposing syndrome; n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)