I92N (p.Ile92Asn) variant of TNFRSF13B (O14836)
I92N (p.Ile92Asn) 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 0.42 / 1. The record also includes population frequency data.
I92N (p.Ile92Asn) variant details
- p.Ile92Asn
- rs368250378
- ClinGen CA8414054
- ClinVar RCV001957932
- ESP rs368250378
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.48
- CADD 24.80
- PolyPhen-2 0.93
- SIFT 0.00
- 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 0.00041)