R20S (p.Arg20Ser) variant of TNFRSF13B (O14836)
R20S (p.Arg20Ser) in TNFRSF13B (O14836) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
R20S (p.Arg20Ser) variant details
- p.Arg20Ser
- 1000Genomes rs200013015
- ESP rs200013015
- ExAC rs200013015
- TOPMed rs200013015
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.17
- CADD 3.95
- PolyPhen-2 0.01
- SIFT 0.84
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)