L24P (p.Leu24Pro) variant of BACH2 (Q9BYV9)
L24P (p.Leu24Pro) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency 60. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature.
L24P (p.Leu24Pro) variant details
- p.Leu24Pro
- rs1562364898
- ClinGen CA365069503
- ClinVar RCV000767852
- Ensembl rs1562364898
- Pathogenic
- Immunodeficiency 60
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- AlphaMissense 1.00
- MetaLR 0.30
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Pathogenic (Immunodeficiency 60)
- EBI: Pathogenic (in IMD60)
- UniProt: Pathogenic (in IMD60)
- Cited in: BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency. (PMID 28530713)