L31C (p.Leu31Cys) variant of DNM1 (Dynamin-1)
L31C (p.Leu31Cys) in DNM1 (Dynamin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L31C (p.Leu31Cys) variant details
- p.Leu31Cys
- gnomAD 9-128203559-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 27.50
- Population evidence available
- Structural context available
- Literature evidence available