C5G (p.Cys5Gly) variant of TNFRSF9 (Q07011)
C5G (p.Cys5Gly) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 109 with lymphoproliferation; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
C5G (p.Cys5Gly) variant details
- p.Cys5Gly
- rs556537043
- ClinGen CA569378
- ClinVar RCV002007989
- ClinVar RCV005025565
- Uncertain significance
- Immunodeficiency 109 with lymphoproliferation; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.16
- CADD 13.20
- PolyPhen-2 0.04
- SIFT 0.32
- ClinVar: Uncertain significance (Immunodeficiency 109 with lymphoproliferation; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available