A22D (p.Ala22Asp) variant of DNM1 (Dynamin-1)
A22D (p.Ala22Asp) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A22D (p.Ala22Asp) variant details
- p.Ala22Asp
- gnomAD 9-128203535-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.46
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available