H54Q (p.His54Gln) variant of SPI1 (Transcription factor PU.1)
H54Q (p.His54Gln) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Agammaglobulinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
H54Q (p.His54Gln) variant details
- p.His54Gln
- TOPMed rs1003294395
- gnomAD rs1003294395
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.06
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.10
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available