C96W (p.Cys96Trp) variant of MEF2C (Q06413)
C96W (p.Cys96Trp) in MEF2C (Q06413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
C96W (p.Cys96Trp) variant details
- p.Cys96Trp
- ExAC rs752200616
- gnomAD rs752200616
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.61
- CADD 32.00
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available