R49T (p.Arg49Thr) variant of NFKB2 (Q00653)
R49T (p.Arg49Thr) in NFKB2 (Q00653) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Immunodeficiency, common variable, 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data.
R49T (p.Arg49Thr) variant details
- p.Arg49Thr
- rs2544577178
- ClinGen CA377896026
- ClinVar RCV002284795
- ClinVar RCV003101637
- Uncertain significance
- not provided; Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- CADD 34.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)