G38C (p.Gly38Cys) variant of DNM1 (Dynamin-1)
G38C (p.Gly38Cys) in DNM1 (Dynamin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G38C (p.Gly38Cys) variant details
- p.Gly38Cys
- gnomAD 9-128203582-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available