E28V (p.Glu28Val) variant of MET (P08581)
E28V (p.Glu28Val) 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.
E28V (p.Glu28Val) variant details
- p.Glu28Val
- rs2116579734
- ClinGen CA368968306
- cosmic curated COSV59260
- ClinVar RCV003597005
- Uncertain significance
- Renal cell carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- AlphaMissense 0.27
- MetaLR 0.61
- MetaSVM 0.27
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.38
- ClinVar: Uncertain significance (Renal cell carcinoma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available