E54K (p.Glu54Lys) variant of FOXI1 (Forkhead box protein I1)
E54K (p.Glu54Lys) in FOXI1 (Forkhead box protein I1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E54K (p.Glu54Lys) variant details
- p.Glu54Lys
- cosmic curated COSV60388
- 1000Genomes rs561448899
- ExAC rs561448899
- gnomAD rs561448899
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.43
- CADD 24.40
- PolyPhen-2 0.21
- SIFT 0.04
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available