V33A (p.Val33Ala) variant of TNFRSF13C (Q96RJ3)
V33A (p.Val33Ala) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar 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 0.41 / 1. The record also includes population frequency data.
V33A (p.Val33Ala) variant details
- p.Val33Ala
- TOPMed rs2077634573
- gnomAD rs2077634573
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.27
- CADD 24.30
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)