F10I (p.Phe10Ile) variant of IL4R (P24394)
F10I (p.Phe10Ile) in IL4R (P24394) 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 0.07 / 1. The record also includes population frequency data and structural context.
F10I (p.Phe10Ile) variant details
- p.Phe10Ile
- ESP rs140214944
- TOPMed rs140214944
- gnomAD rs140214944
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0679
- REVEL 0.03
- CADD 8.20
- PolyPhen-2 0.10
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.2e-05)
- Structural context available