E50K (p.Glu50Lys) variant of FOXI1 (Forkhead box protein I1)
E50K (p.Glu50Lys) in FOXI1 (Forkhead box protein I1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- gnomAD 5-170106105-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.30
- MetaLR 0.64
- MetaSVM 0.48
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available