L31Q (p.Leu31Gln) variant of DNM1 (Dynamin-1)
L31Q (p.Leu31Gln) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L31Q (p.Leu31Gln) variant details
- p.Leu31Gln
- gnomAD 9-128203562-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.89
- CADD 28.10
- PolyPhen-2 0.71
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available