S55R (p.Ser55Arg) variant of TNFRSF9 (Q07011)
S55R (p.Ser55Arg) 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 0.21 / 1. The record also includes population frequency data and structural context.
S55R (p.Ser55Arg) variant details
- p.Ser55Arg
- rs150479025
- ClinGen CA569327
- ClinVar RCV002036526
- 1000Genomes rs150479025
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.24
- CADD 4.28
- PolyPhen-2 0.15
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available