S50G (p.Ser50Gly) variant of MEF2C (Q06413)
S50G (p.Ser50Gly) in MEF2C (Q06413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S50G (p.Ser50Gly) variant details
- p.Ser50Gly
- gnomAD rs1156748158
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.73
- CADD 22.40
- PolyPhen-2 0.99
- SIFT 0.78
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available