D41N (p.Asp41Asn) variant of TNFRSF13B (O14836)
D41N (p.Asp41Asn) 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 0.65 / 1. The record also includes population frequency data.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- rs67951770
- ClinGen CA8414108
- ClinVar RCV002046540
- 1000Genomes rs67951770
- Uncertain significance
- Immunodeficiency, common variable, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.65
- CADD 23.50
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)