L93F (p.Leu93Phe) variant of MEF2C (Q06413)
L93F (p.Leu93Phe) in MEF2C (Q06413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L93F (p.Leu93Phe) variant details
- p.Leu93Phe
- cosmic curated COSV10522
- gnomAD rs1388407854
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.33
- CADD 23.70
- PolyPhen-2 0.54
- SIFT 0.81
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available