R84K (p.Arg84Lys) variant of TNFRSF13B (O14836)
R84K (p.Arg84Lys) 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 0.36 / 1. The record also includes population frequency data.
R84K (p.Arg84Lys) variant details
- p.Arg84Lys
- ExAC rs747863360
- TOPMed rs747863360
- gnomAD rs747863360
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.20
- CADD 7.82
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)