R6W (p.Arg6Trp) variant of TNFRSF13B (O14836)
R6W (p.Arg6Trp) 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 0.46 / 1. The record also includes population frequency data and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- rs768911609
- ClinGen CA8414170
- ClinVar RCV001070612
- ExAC rs768911609
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.32
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.01
- 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 0.00041)
- Structural context available