R4L (p.Arg4Leu) variant of DNM1 (Dynamin-1)
R4L (p.Arg4Leu) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- gnomAD 9-128203481-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.65
- CADD 25.10
- PolyPhen-2 0.10
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available