D38E (p.Asp38Glu) variant of CDC42 (P60953)
D38E (p.Asp38Glu) in CDC42 (P60953) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D38E (p.Asp38Glu) variant details
- p.Asp38Glu
- gnomAD 1-22078774-G-GGTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 18.50
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available