G10D (p.Gly10Asp) variant of TNFRSF13C (Q96RJ3)
G10D (p.Gly10Asp) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
G10D (p.Gly10Asp) variant details
- p.Gly10Asp
- rs2518792157
- ClinGen CA411763888
- ClinVar RCV003860845
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.11
- CADD 22.10
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available