E28Q (p.Glu28Gln) variant of MET (P08581)
E28Q (p.Glu28Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- rs1562882876
- ClinGen CA368968302
- cosmic curated COSV10462
- ClinVar RCV003597130
- Uncertain significance
- Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.23
- MetaLR 0.63
- MetaSVM 0.19
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.56
- ClinVar: Uncertain significance (Renal cell carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available