M1I (p.Met1Ile) variant of DNM1 (Dynamin-1)
M1I (p.Met1Ile) in DNM1 (Dynamin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Developmental and epileptic encephalopathy, 31A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1401701364
- ClinGen CA375006149
- ClinVar RCV001442440
- Likely benign
- Developmental and epileptic encephalopathy, 31A
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- MetaLR 0.85
- MetaSVM 0.46
- PolyPhen-2 0.74
- SIFT 0.04
- MutPred 0.94
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 31A)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available