I23L (p.Ile23Leu) variant of DNM1 (Dynamin-1)
I23L (p.Ile23Leu) 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.
I23L (p.Ile23Leu) variant details
- p.Ile23Leu
- gnomAD 9-128203537-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.51
- CADD 24.10
- PolyPhen-2 0.74
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available