H81N (p.His81Asn) variant of TNFRSF13B (O14836)
H81N (p.His81Asn) 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 0.28 / 1. The record also includes population frequency data.
H81N (p.His81Asn) variant details
- p.His81Asn
- rs769360883
- ClinGen CA8414060
- ClinVar RCV001990251
- ExAC rs769360883
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.26
- CADD 15.70
- PolyPhen-2 0.13
- SIFT 0.14
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)