R72H (p.Arg72His) variant of TNFRSF13B (O14836)
R72H (p.Arg72His) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2; not specifi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R72H (p.Arg72His) variant details
- p.Arg72His
- rs55916807
- ClinGen CA8414067
- ClinVar RCV000441515
- ClinVar RCV000762233
- Likely benign
- Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2; not specifi
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.50
- AlphaMissense 0.18
- MetaLR 0.68
- MetaSVM -0.23
- CADD 8.85
- PolyPhen-2 0.00
- ClinVar: Likely benign (Immunodeficiency, common variable, 2; Immunoglobulin A deficienc)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available