H109R (p.His109Arg) variant of MEF2C (Q06413)
H109R (p.His109Arg) in MEF2C (Q06413) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H109R (p.His109Arg) variant details
- p.His109Arg
- TOPMed rs1267170072
- gnomAD rs1267170072
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.34
- CADD 18.00
- PolyPhen-2 0.34
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available