S7R (p.Ser7Arg) variant of TNFRSF13B (O14836)
S7R (p.Ser7Arg) 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 0.19 / 1. The record also includes population frequency data and structural context.
S7R (p.Ser7Arg) variant details
- p.Ser7Arg
- rs780461208
- ClinGen CA8414168
- ClinVar RCV001324721
- ExAC rs780461208
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.18
- CADD 9.74
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available