R20H (p.Arg20His) variant of TNFRSF13B (O14836)
R20H (p.Arg20His) 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 0.20 / 1. The record also includes population frequency data.
R20H (p.Arg20His) variant details
- p.Arg20His
- rs768682333
- ClinGen CA8414153
- NCI-TCGA Cosmic COSV5542
- cosmic curated COSV55426
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.25
- CADD 8.40
- PolyPhen-2 0.05
- SIFT 0.61
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)