M1T (p.Met1Thr) variant of DNM1 (Dynamin-1)
M1T (p.Met1Thr) in DNM1 (Dynamin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 31A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1588293610
- ClinGen CA375006141
- ClinVar RCV003754361
- Uncertain significance
- Developmental and epileptic encephalopathy, 31A
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- MetaLR 0.86
- MetaSVM 0.47
- PolyPhen-2 0.87
- SIFT 0.00
- MutPred 0.93
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 31A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available