G76C (p.Gly76Cys) variant of TNFRSF13B (O14836)
G76C (p.Gly76Cys) 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 0.74 / 1. The record also includes population frequency data and structural context.
G76C (p.Gly76Cys) variant details
- p.Gly76Cys
- rs146436713
- ClinGen CA8414065
- ClinVar RCV001984561
- 1000Genomes rs146436713
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.72
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available