E18G (p.Glu18Gly) variant of TNFRSF13B (O14836)
E18G (p.Glu18Gly) 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; Immunoglobulin A deficiency 2; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
E18G (p.Glu18Gly) variant details
- p.Glu18Gly
- rs1597672265
- ClinGen CA398520596
- cosmic curated COSV10506
- ClinVar RCV000788280
- Uncertain significance
- Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.28
- CADD 21.30
- PolyPhen-2 0.60
- SIFT 0.30
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2; Immunoglobulin A deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)