E54D (p.Glu54Asp) variant of FOXI1 (Forkhead box protein I1)
E54D (p.Glu54Asp) in FOXI1 (Forkhead box protein I1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- ExAC rs767098191
- TOPMed rs767098191
- gnomAD rs767098191
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.25
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available