E34K (p.Glu34Lys) variant of MET (P08581)
E34K (p.Glu34Lys) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer; Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- rs764246939
- ClinGen CA4447945
- cosmic curated COSV59259
- ClinVar RCV001312212
- Conflicting interpretations
- Hereditary cancer; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.05
- MetaLR 0.17
- MetaSVM -0.91
- CADD 4.65
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer; Hereditary cancer-predisposing syndrome; not)
- EBI: Likely benign
- UniProt: Likely benign
- 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)