C117R (p.Cys117Arg) variant of TNFRSF9 (Q07011)
C117R (p.Cys117Arg) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
C117R (p.Cys117Arg) variant details
- p.Cys117Arg
- ESP rs371033313
- ExAC rs371033313
- TOPMed rs371033313
- gnomAD rs371033313
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.84
- CADD 26.30
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available