D3E (p.Asp3Glu) variant of FOXG1 (Forkhead box protein G1)
D3E (p.Asp3Glu) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D3E (p.Asp3Glu) variant details
- p.Asp3Glu
- ExAC rs764914165
- gnomAD rs764914165
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.33
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available