N106S (p.Asn106Ser) variant of TNFRSF13B (O14836)
N106S (p.Asn106Ser) 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 0.45 / 1. The record also includes structural context.
N106S (p.Asn106Ser) variant details
- p.Asn106Ser
- rs2087567988
- ClinGen CA398520005
- ClinVar RCV001068116
- Ensembl rs2087567988
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- AlphaMissense 0.16
- MetaLR 0.53
- MetaSVM -0.39
- PolyPhen-2 0.27
- SIFT 0.25
- EVE 0.19
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available