V241G (p.Val241Gly) variant of SPI1 (Transcription factor PU.1)
V241G (p.Val241Gly) 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 0.42 / 1. The record also includes published literature and structural context.
V241G (p.Val241Gly) variant details
- p.Val241Gly
- rs2095906404
- ClinGen CA380344313
- ClinVar RCV001172538
- ClinVar RCV002260124
- Likely pathogenic
- Agammaglobulinemia 10, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 0.99
- MetaLR 0.08
- MetaSVM -1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- 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)