E43K (p.Glu43Lys) variant of DAP3 (P51398)
E43K (p.Glu43Lys) in DAP3 (P51398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- ExAC rs749012692
- TOPMed rs749012692
- gnomAD rs749012692
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available