A52T (p.Ala52Thr) variant of TNFRSF13C (Q96RJ3)
A52T (p.Ala52Thr) in TNFRSF13C (Q96RJ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Immunodeficiency, common variable, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
A52T (p.Ala52Thr) variant details
- p.Ala52Thr
- rs2146589489
- ClinGen CA411763386
- ClinVar RCV003132911
- Ensembl rs2146589489
- Likely pathogenic
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.14
- CADD 16.80
- PolyPhen-2 0.23
- SIFT 0.06
- ClinVar: Likely pathogenic (Immunodeficiency, common variable, 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)