D5Y (p.Asp5Tyr) variant of FOXI1 (Forkhead box protein I1)
D5Y (p.Asp5Tyr) in FOXI1 (Forkhead box protein I1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D5Y (p.Asp5Tyr) variant details
- p.Asp5Tyr
- ExAC rs779571186
- TOPMed rs779571186
- gnomAD rs779571186
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.56
- CADD 25.70
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available