R60S (p.Arg60Ser) variant of TNFRSF13B (O14836)
R60S (p.Arg60Ser) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
R60S (p.Arg60Ser) variant details
- p.Arg60Ser
- ExAC rs777555444
- TOPMed rs777555444
- gnomAD rs777555444
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.23
- CADD 17.00
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)