Q33* (p.Gln33Ter) variant of DNM1 (Dynamin-1)
Q33* (p.Gln33Ter) in DNM1 (Dynamin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
Q33* (p.Gln33Ter) variant details
- p.Gln33Ter
- rs1458807270
- ClinGen CA375006555
- ClinVar RCV003224769
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.869
- AlphaMissense 0.71
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.86
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic… (PMID 34172529)