F89I (p.Phe89Ile) variant of TNFRSF1A (P19438)
F89I (p.Phe89Ile) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoinflammatory syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
F89I (p.Phe89Ile) variant details
- p.Phe89Ile
- rs104895245
- ClinGen CA383550552
- ClinVar RCV002264543
- Ensembl rs104895245
- Uncertain significance
- Autoinflammatory syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.77
- AlphaMissense 0.96
- MetaLR 0.88
- MetaSVM 0.82
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Autoinflammatory syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available