S88N (p.Ser88Asn) variant of TNFRSF13B (O14836)
S88N (p.Ser88Asn) 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 0.48 / 1. The record also includes population frequency data.
S88N (p.Ser88Asn) variant details
- p.Ser88Asn
- rs759002769
- ClinGen CA288288106
- ClinVar RCV002006034
- Ensembl rs759002769
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.51
- CADD 22.30
- PolyPhen-2 0.98
- SIFT 0.06
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)