Q58L (p.Gln58Leu) variant of TNFRSF13C (Q96RJ3)
Q58L (p.Gln58Leu) 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 0.20 / 1. The record also includes population frequency data.
Q58L (p.Gln58Leu) variant details
- p.Gln58Leu
- rs1602373983
- ClinGen CA411763346
- ClinVar RCV000802509
- Ensembl rs1602373983
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.06
- CADD 19.10
- PolyPhen-2 0.23
- SIFT 0.07
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)