A27V (p.Ala27Val) variant of DNM1 (Dynamin-1)
A27V (p.Ala27Val) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD 9-128203550-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.32
- CADD 22.50
- PolyPhen-2 0.10
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available