G34C (p.Gly34Cys) variant of TNFRSF9 (Q07011)
G34C (p.Gly34Cys) 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 0.74 / 1. The record also includes population frequency data and structural context.
G34C (p.Gly34Cys) variant details
- p.Gly34Cys
- ExAC rs201012166
- TOPMed rs201012166
- gnomAD rs201012166
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.67
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available