R79P (p.Arg79Pro) variant of MEF2C (Q06413)
R79P (p.Arg79Pro) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
R79P (p.Arg79Pro) variant details
- p.Arg79Pro
- rs1554139693
- ClinGen CA360424804
- ClinVar RCV000658068
- Ensembl rs1554139693
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.90
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available