S21F (p.Ser21Phe) variant of DNM1 (Dynamin-1)
S21F (p.Ser21Phe) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S21F (p.Ser21Phe) variant details
- p.Ser21Phe
- gnomAD 9-128203532-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.64
- CADD 24.60
- PolyPhen-2 0.19
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available