I8T (p.Ile8Thr) variant of TNFRSF9 (Q07011)
I8T (p.Ile8Thr) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
I8T (p.Ile8Thr) variant details
- p.Ile8Thr
- ESP rs369147413
- ExAC rs369147413
- TOPMed rs369147413
- gnomAD rs369147413
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.11
- CADD 9.91
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available