G76S (p.Gly76Ser) variant of TNFRSF13B (O14836)
G76S (p.Gly76Ser) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G76S (p.Gly76Ser) variant details
- p.Gly76Ser
- rs146436713
- ClinGen CA8414064
- cosmic curated COSV55426
- ClinVar RCV000909193
- Likely benign
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.66
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Immunodeficiency, common variable, 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available