E77K (p.Glu77Lys) variant of MEF2C (Q06413)
E77K (p.Glu77Lys) in MEF2C (Q06413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
E77K (p.Glu77Lys) variant details
- p.Glu77Lys
- cosmic curated COSV60928
- 1000Genomes rs577764467
- ExAC rs577764467
- gnomAD rs577764467
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.76
- CADD 29.50
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available