Q33E (p.Gln33Glu) variant of DNM1 (Dynamin-1)
Q33E (p.Gln33Glu) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
Q33E (p.Gln33Glu) variant details
- p.Gln33Glu
- gnomAD rs1458807270
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.88
- AlphaMissense 0.71
- MetaLR 0.92
- MetaSVM 1.07
- CADD 25.10
- PolyPhen-2 0.93
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available