G34S (p.Gly34Ser) variant of TNFRSF9 (Q07011)
G34S (p.Gly34Ser) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- rs201012166
- ClinGen CA569356
- ClinVar RCV001316798
- ExAC rs201012166
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.67
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available