Q57H (p.Gln57His) variant of TNFRSF13B (O14836)
Q57H (p.Gln57His) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of TNFRSF13B-related disorder; not provided; Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
Q57H (p.Gln57His) variant details
- p.Gln57His
- rs149084717
- ClinGen CA8414097
- ClinVar RCV001053659
- ClinVar RCV001531259
- Conflicting interpretations
- TNFRSF13B-related disorder; not provided; Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.22
- CADD 20.70
- PolyPhen-2 0.85
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (TNFRSF13B-related disorder; not provided; Immunodeficiency, comm)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)