A67T (p.Ala67Thr) variant of TNFRSF13C (Q96RJ3)
A67T (p.Ala67Thr) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Immunodeficiency, common variable, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data.
A67T (p.Ala67Thr) variant details
- p.Ala67Thr
- rs1050585658
- ClinGen CA324633614
- ClinVar RCV001036651
- ClinVar RCV004877694
- Uncertain significance
- not specified; Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.0367
- REVEL 0.02
- CADD 0.30
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (not specified; Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)