R60C (p.Arg60Cys) variant of TNFRSF13B (O14836)
R60C (p.Arg60Cys) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
R60C (p.Arg60Cys) variant details
- p.Arg60Cys
- rs777555444
- ClinGen CA8414096
- ClinVar RCV000822832
- ClinVar RCV004693396
- Uncertain significance
- Immunodeficiency, common variable, 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.33
- CADD 23.10
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)