I23V (p.Ile23Val) variant of DNM1 (Dynamin-1)
I23V (p.Ile23Val) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I23V (p.Ile23Val) variant details
- p.Ile23Val
- gnomAD 9-128203537-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.48
- CADD 23.70
- PolyPhen-2 0.52
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available