E36K (p.Glu36Lys) variant of TNFRSF13B (O14836)
E36K (p.Glu36Lys) 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 0.28 / 1. The record also includes population frequency data and structural context.
E36K (p.Glu36Lys) variant details
- p.Glu36Lys
- rs143099385
- ClinGen CA8414114
- cosmic curated COSV10455
- ClinVar RCV003506584
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.29
- CADD 16.40
- PolyPhen-2 0.14
- SIFT 0.22
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available