E42D (p.Glu42Asp) variant of MEF2C (Q06413)
E42D (p.Glu42Asp) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes structural context.
E42D (p.Glu42Asp) variant details
- p.Glu42Asp
- rs2153074530
- ClinGen CA360425066
- ClinVar RCV001754425
- Ensembl rs2153074530
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 1.00
- MetaLR 0.59
- MetaSVM 0.29
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available