A19V (p.Ala19Val) variant of DNM1 (Dynamin-1)
A19V (p.Ala19Val) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- gnomAD 9-128203526-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.67
- CADD 22.20
- PolyPhen-2 0.33
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available