R20S (p.Arg20Ser) variant of TNFRSF9 (Q07011)
R20S (p.Arg20Ser) in TNFRSF9 (Q07011) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- 1000Genomes rs148154405
- ExAC rs148154405
- TOPMed rs148154405
- gnomAD rs148154405
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.13
- CADD 14.60
- PolyPhen-2 0.17
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available