R84S (p.Arg84Ser) variant of TNFRSF13B (O14836)
R84S (p.Arg84Ser) in TNFRSF13B (O14836) 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 0.31 / 1. The record also includes population frequency data.
R84S (p.Arg84Ser) variant details
- p.Arg84Ser
- rs2087569105
- ClinGen CA398520148
- ClinVar RCV003129066
- Ensembl rs2087569105
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.41
- CADD 14.10
- PolyPhen-2 0.47
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)