I962T (p.Ile962Thr) variant of MECOM (Q03112)
I962T (p.Ile962Thr) in MECOM (Q03112) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions.
I962T (p.Ile962Thr) variant details
- p.Ile962Thr
- rs2148890956
- ClinGen CA355073994
- ClinVar RCV002266025
- Ensembl rs2148890956
- Uncertain significance
- Inborn genetic diseases
- Missense
- MutPred 0.55
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic