E43G (p.Glu43Gly) variant of DAP3 (P51398)
E43G (p.Glu43Gly) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E43G (p.Glu43Gly) variant details
- p.Glu43Gly
- gnomAD 1-155717088-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available