F103L (p.Phe103Leu) variant of TNFRSF13B (O14836)
F103L (p.Phe103Leu) 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 0.47 / 1. The record also includes population frequency data and structural context.
F103L (p.Phe103Leu) variant details
- p.Phe103Leu
- rs1201043139
- ClinGen CA398520023
- ClinVar RCV002589466
- gnomAD rs1201043139
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.52
- CADD 23.40
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available