C72F (p.Cys72Phe) variant of TNFRSF1A (P19438)
C72F (p.Cys72Phe) in TNFRSF1A (P19438) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoinflammatory syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
C72F (p.Cys72Phe) variant details
- p.Cys72Phe
- rs104895252
- ClinGen CA383550715
- ClinVar RCV002264542
- Ensembl rs104895252
- Likely pathogenic
- Autoinflammatory syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.89
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.81
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Autoinflammatory syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available