D41G (p.Asp41Gly) variant of TNFRSF13B (O14836)
D41G (p.Asp41Gly) in TNFRSF13B (O14836) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified; Immunodeficiency, common variable, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
D41G (p.Asp41Gly) variant details
- p.Asp41Gly
- rs763197017
- ClinGen CA8414107
- ClinVar RCV001361513
- ClinVar RCV004770099
- Uncertain significance
- not provided; not specified; Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.82
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; not specified; Immunodeficiency, common variable,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)