N807K (p.Asn807Lys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
N807K (p.Asn807Lys) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Intellectual developmental disorder with speech delay, dysmorphic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
N807K (p.Asn807Lys) variant details
- p.Asn807Lys
- rs888230251
- ClinGen CA390933262
- ClinVar RCV000678214
- ClinVar RCV000995706
- Pathogenic/Likely pathogenic
- not provided; Intellectual developmental disorder with speech delay, dysmorphic
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- AlphaMissense 1.00
- MetaLR 0.06
- MetaSVM -1.16
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.42
- ClinVar: Pathogenic/Likely pathogenic (not provided; Intellectual developmental disorder with speech de)
- 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)