T51I (p.Thr51Ile) variant of MEF2C (Q06413)
T51I (p.Thr51Ile) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of intellectual deficiency; Epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- rs1057519001
- ClinGen CA16043612
- ClinVar RCV000415447
- Ensembl rs1057519001
- Uncertain significance
- intellectual deficiency; Epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 0.95
- MetaLR 0.79
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.67
- ClinVar: Uncertain significance (intellectual deficiency; Epilepsy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available