A22S (p.Ala22Ser) variant of DNM1 (Dynamin-1)
A22S (p.Ala22Ser) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- gnomAD 9-128203534-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.27
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available