R14L (p.Arg14Leu) variant of TNFRSF13B (O14836)
R14L (p.Arg14Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- rs200309474
- ClinGen CA8414158
- ClinVar RCV001220398
- ClinVar RCV001751422
- Uncertain significance
- Immunodeficiency, common variable, 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.30
- CADD 5.34
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)