W26R (p.Trp26Arg) variant of TNFRSF13B (O14836)
W26R (p.Trp26Arg) 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.
W26R (p.Trp26Arg) variant details
- p.Trp26Arg
- rs773591883
- ClinGen CA8414125
- ClinVar RCV000698824
- ExAC rs773591883
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.21
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available