T22R (p.Thr22Arg) variant of MEF2C (Q06413)
T22R (p.Thr22Arg) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes structural context.
T22R (p.Thr22Arg) variant details
- p.Thr22Arg
- rs1580990072
- ClinGen CA360425204
- ClinVar RCV001003588
- Ensembl rs1580990072
- Likely pathogenic
- Epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- AlphaMissense 0.99
- MetaLR 0.67
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Epileptic encephalopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available