Y5D (p.Tyr5Asp) variant of NFKB2 (Q00653)
Y5D (p.Tyr5Asp) in NFKB2 (Q00653) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
Y5D (p.Tyr5Asp) variant details
- p.Tyr5Asp
- rs1455622222
- ClinGen CA377895696
- ClinVar RCV003845213
- Uncertain significance
- Immunodeficiency, common variable, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- AlphaMissense 0.12
- MetaLR 0.15
- MetaSVM -0.97
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.29
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available