L12M (p.Leu12Met) variant of DNM1 (Dynamin-1)
L12M (p.Leu12Met) 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 0.55 / 1. The record also includes population frequency data and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- rs2538912418
- ClinGen CA2739265044
- ClinVar RCV003753803
- Uncertain significance
- Developmental and epileptic encephalopathy, 31A
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.60
- CADD 26.10
- PolyPhen-2 0.89
- SIFT 0.02
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 31A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available