D8G (p.Asp8Gly) variant of DNM1 (Dynamin-1)
D8G (p.Asp8Gly) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D8G (p.Asp8Gly) variant details
- p.Asp8Gly
- gnomAD 9-128203493-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.47
- CADD 25.60
- PolyPhen-2 0.16
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available