C41R (p.Cys41Arg) variant of MEF2C (Q06413)
C41R (p.Cys41Arg) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
C41R (p.Cys41Arg) variant details
- p.Cys41Arg
- rs794727493
- ClinGen CA243260
- ClinVar RCV000177153
- Ensembl rs794727493
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.68
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available