Q108K (p.Gln108Lys) variant of TNFRSF9 (Q07011)
Q108K (p.Gln108Lys) in TNFRSF9 (Q07011) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q108K (p.Gln108Lys) variant details
- p.Gln108Lys
- ESP rs147680622
- ExAC rs147680622
- TOPMed rs147680622
- gnomAD rs147680622
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.23
- CADD 9.58
- PolyPhen-2 0.01
- SIFT 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available