R14H (p.Arg14His) variant of TNFRSF13B (O14836)
R14H (p.Arg14His) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; 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.
R14H (p.Arg14His) variant details
- p.Arg14His
- rs200309474
- ClinGen CA8414157
- ClinVar RCV001212835
- ClinVar RCV001811468
- Conflicting interpretations
- not provided; not specified; Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.40
- CADD 6.66
- PolyPhen-2 0.10
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Immunodeficiency, common variable,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)