P18S (p.Pro18Ser) variant of TNFRSF13C (Q96RJ3)
P18S (p.Pro18Ser) 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 0.10 / 1. The record also includes population frequency data and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- rs2077634829
- ClinGen CA411763803
- ClinVar RCV003838181
- TOPMed rs2077634829
- Uncertain significance
- Immunodeficiency, common variable, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.104
- REVEL 0.01
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available