R6Q (p.Arg6Gln) variant of TNFRSF13B (O14836)
R6Q (p.Arg6Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R6Q (p.Arg6Gln) variant details
- p.Arg6Gln
- rs747078163
- ClinGen CA8414169
- cosmic curated COSV55430
- ClinVar RCV000648143
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.25
- CADD 7.12
- PolyPhen-2 0.00
- SIFT 0.75
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available