R72C (p.Arg72Cys) variant of TNFRSF13B (O14836)
R72C (p.Arg72Cys) 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; Immunoglobulin A deficiency 2; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R72C (p.Arg72Cys) variant details
- p.Arg72Cys
- rs375514495
- ClinGen CA8414068
- cosmic curated COSV55430
- ClinVar RCV001043027
- Uncertain significance
- Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.47
- CADD 24.00
- PolyPhen-2 0.77
- SIFT 0.06
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2; Immunoglobulin A deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available