Q56H (p.Gln56His) variant of MEF2C (Q06413)
Q56H (p.Gln56His) 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 0.76 / 1. The record also includes structural context.
Q56H (p.Gln56His) variant details
- p.Gln56His
- rs2153074335
- ClinGen CA360424968
- ClinVar RCV001758339
- Ensembl rs2153074335
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- AlphaMissense 1.00
- MetaLR 0.68
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available