N441K (p.Asn441Lys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
N441K (p.Asn441Lys) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Combined immunodeficiency; Immunodeficiency 49. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
N441K (p.Asn441Lys) variant details
- p.Asn441Lys
- rs750610248
- ClinGen CA10586691
- ClinVar RCV000241534
- ClinVar RCV000412543
- Pathogenic
- Combined immunodeficiency; Immunodeficiency 49
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 1.00
- MetaLR 0.10
- MetaSVM -1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.57
- ClinVar: Pathogenic (Combined immunodeficiency; Immunodeficiency 49)
- EBI: Pathogenic (in IMD49)
- UniProt: Pathogenic (in IMD49)
- Structural context available
- Cited in: Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B. (PMID 27959755)
- Cited in: BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. (PMID 29985992)