R14C (p.Arg14Cys) variant of TNFRSF13B (O14836)
R14C (p.Arg14Cys) 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 0.24 / 1. The record also includes population frequency data.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- rs370503383
- ClinGen CA8414159
- cosmic curated COSV55428
- ClinVar RCV001304885
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.28
- CADD 16.90
- PolyPhen-2 0.18
- SIFT 0.02
- 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 2.4e-05)