H211P (p.His211Pro) variant of SPI1 (Transcription factor PU.1)
H211P (p.His211Pro) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Agammaglobulinemia 10, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
H211P (p.His211Pro) variant details
- p.His211Pro
- rs2095906547
- ClinGen CA380344980
- ClinVar RCV001172539
- ClinVar RCV001819692
- Likely pathogenic
- Agammaglobulinemia 10, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 1.00
- MetaLR 0.10
- MetaSVM -1.02
- PolyPhen-2 0.94
- SIFT 0.01
- EVE 0.48
- ClinVar: Likely pathogenic (Agammaglobulinemia 10, autosomal dominant)
- EBI: Pathogenic (in AGM10)
- UniProt: Pathogenic (in AGM10)
- Structural context available
- Cited in: Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients. (PMID 33951726)