S2N (p.Ser2Asn) variant of TNFRSF13B (O14836)
S2N (p.Ser2Asn) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- rs2087749412
- ClinGen CA398520684
- ClinVar RCV001339317
- Ensembl rs2087749412
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.30
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)