I87N (p.Ile87Asn) variant of TNFRSF13B (O14836)
I87N (p.Ile87Asn) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Common variable immunodeficiency; not provided; Immunodeficiency, common variabl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
I87N (p.Ile87Asn) variant details
- p.Ile87Asn
- rs72553877
- ClinGen CA8414057
- ClinVar RCV000756794
- ClinVar RCV000800201
- Conflicting interpretations
- Common variable immunodeficiency; not provided; Immunodeficiency, common variabl
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.62
- CADD 24.60
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Common variable immunodeficiency; not provided; Immunodeficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)