Q17K (p.Gln17Lys) variant of DNM1 (Dynamin-1)
Q17K (p.Gln17Lys) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q17K (p.Gln17Lys) variant details
- p.Gln17Lys
- gnomAD 9-128203519-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.81
- CADD 24.00
- PolyPhen-2 0.32
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available