D30A (p.Asp30Ala) variant of DNM1 (Dynamin-1)
D30A (p.Asp30Ala) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D30A (p.Asp30Ala) variant details
- p.Asp30Ala
- ExAC rs778543086
- gnomAD rs778543086
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.66
- CADD 25.60
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available