A13S (p.Ala13Ser) variant of TNFRSF13C (Q96RJ3)
A13S (p.Ala13Ser) 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 0.11 / 1. The record also includes population frequency data.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- rs2077635069
- ClinGen CA411763854
- ClinVar RCV001222123
- Ensembl rs2077635069
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.01
- CADD 7.41
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available