E28D (p.Glu28Asp) variant of MET (P08581)
E28D (p.Glu28Asp) 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 0.48 / 1. The record also includes structural context.
E28D (p.Glu28Asp) variant details
- p.Glu28Asp
- rs759602956
- ClinGen CA368968307
- ClinVar RCV002031249
- ExAC rs759602956
- Uncertain significance
- Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- AlphaMissense 0.25
- MetaLR 0.52
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.29
- ClinVar: Uncertain significance (Renal cell carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available