E19K (p.Glu19Lys) variant of TNFRSF13B (O14836)
E19K (p.Glu19Lys) 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 0.30 / 1. The record also includes population frequency data.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs1232982545
- ClinGen CA398520590
- cosmic curated COSV10723
- ClinVar RCV003088649
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.18
- CADD 11.70
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)