E34Q (p.Glu34Gln) variant of MET (P08581)
E34Q (p.Glu34Gln) in MET (P08581) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Renal cell carcinoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E34Q (p.Glu34Gln) variant details
- p.Glu34Gln
- rs764246939
- ClinGen CA368968338
- ClinVar RCV001204887
- ExAC rs764246939
- Conflicting interpretations
- Renal cell carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.11
- MetaLR 0.28
- MetaSVM -0.55
- CADD 7.61
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Renal cell carcinoma; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available