E70K (p.Glu70Lys) variant of CD3E (P07766)
E70K (p.Glu70Lys) in CD3E (P07766) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
E70K (p.Glu70Lys) variant details
- p.Glu70Lys
- TOPMed rs779658490
- gnomAD rs779658490
- Missense
- Variant Prioritization Score for Impact Estimate 0.0935
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.07
- CADD 1.10
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available