R20C (p.Arg20Cys) variant of TNFRSF13B (O14836)
R20C (p.Arg20Cys) 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 specifi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- rs200013015
- ClinGen CA8414154
- ClinVar RCV000700484
- ClinVar RCV001171924
- Uncertain significance
- Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2; not specifi
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.29
- CADD 13.10
- PolyPhen-2 0.18
- SIFT 0.20
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2; Immunoglobulin A deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)