S50N (p.Ser50Asn) variant of TNFRSF13C (Q96RJ3)
S50N (p.Ser50Asn) 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 0.22 / 1. The record also includes population frequency data.
S50N (p.Ser50Asn) variant details
- p.Ser50Asn
- rs997496855
- ClinGen CA324633637
- ClinVar RCV003852224
- TOPMed rs997496855
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.03
- CADD 21.40
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)