E112D (p.Glu112Asp) variant of MEF2C (Q06413)
E112D (p.Glu112Asp) in MEF2C (Q06413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E112D (p.Glu112Asp) variant details
- p.Glu112Asp
- gnomAD rs1340835191
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.22
- CADD 20.20
- PolyPhen-2 0.34
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available