V29I (p.Val29Ile) variant of TNFRSF13C (Q96RJ3)
V29I (p.Val29Ile) 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 0.09 / 1. The record also includes population frequency data.
V29I (p.Val29Ile) variant details
- p.Val29Ile
- rs2518792027
- ClinGen CA411763657
- ClinVar RCV003503098
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0883
- REVEL 0.06
- CADD 9.24
- PolyPhen-2 0.22
- SIFT 0.11
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available